Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52024851G>ACA450613896PKHD1c.4959C>T (p.Asn1653=)
c.4317C>T (p.Asn1439=)
c.4248C>T (p.Asn1416=)
c.4884C>T (p.Asn1628=)
c.4695C>T (p.Asn1565=)
c.3099C>T (p.Asn1033=)
n.5235C>T
 ClinVar dbSNP
6g.52024851G>CCA364430393PKHD1c.4959C>G (p.Asn1653Lys)
c.4317C>G (p.Asn1439Lys)
c.4248C>G (p.Asn1416Lys)
c.4884C>G (p.Asn1628Lys)
c.4695C>G (p.Asn1565Lys)
c.3099C>G (p.Asn1033Lys)
n.5235C>G
6g.52024851G>TCA364430395PKHD1c.4959C>A (p.Asn1653Lys)
c.4317C>A (p.Asn1439Lys)
c.4248C>A (p.Asn1416Lys)
c.4884C>A (p.Asn1628Lys)
c.4695C>A (p.Asn1565Lys)
c.3099C>A (p.Asn1033Lys)
n.5235C>A
6g.52024852T>ACA364430399PKHD1c.4958A>T (p.Asn1653Ile)
c.4316A>T (p.Asn1439Ile)
c.4247A>T (p.Asn1416Ile)
c.4883A>T (p.Asn1628Ile)
c.4694A>T (p.Asn1565Ile)
c.3098A>T (p.Asn1033Ile)
n.5234A>T
6g.52024852T>CCA364430403PKHD1c.4958A>G (p.Asn1653Ser)
c.4316A>G (p.Asn1439Ser)
c.4247A>G (p.Asn1416Ser)
c.4883A>G (p.Asn1628Ser)
c.4694A>G (p.Asn1565Ser)
c.3098A>G (p.Asn1033Ser)
n.5234A>G
 dbSNP gnomAD v4
6g.52024852T>GCA364430402PKHD1c.4958A>C (p.Asn1653Thr)
c.4316A>C (p.Asn1439Thr)
c.4247A>C (p.Asn1416Thr)
c.4883A>C (p.Asn1628Thr)
c.4694A>C (p.Asn1565Thr)
c.3098A>C (p.Asn1033Thr)
n.5234A>C
6g.52024852T=CA1628646774PKHD1c.4958A= (p.Asn1653=)
c.4316A= (p.Asn1439=)
c.4247A= (p.Asn1416=)
c.4883A= (p.Asn1628=)
c.4694A= (p.Asn1565=)
c.3098A= (p.Asn1033=)
n.5234A=
6g.52024853T>ACA364430406PKHD1c.4957A>T (p.Asn1653Tyr)
c.4315A>T (p.Asn1439Tyr)
c.4246A>T (p.Asn1416Tyr)
c.4882A>T (p.Asn1628Tyr)
c.4693A>T (p.Asn1565Tyr)
c.3097A>T (p.Asn1033Tyr)
n.5233A>T
6g.52024853T>CCA364430408PKHD1c.4957A>G (p.Asn1653Asp)
c.4315A>G (p.Asn1439Asp)
c.4246A>G (p.Asn1416Asp)
c.4882A>G (p.Asn1628Asp)
c.4693A>G (p.Asn1565Asp)
c.3097A>G (p.Asn1033Asp)
n.5233A>G
6g.52024853T>GCA364430409PKHD1c.4957A>C (p.Asn1653His)
c.4315A>C (p.Asn1439His)
c.4246A>C (p.Asn1416His)
c.4882A>C (p.Asn1628His)
c.4693A>C (p.Asn1565His)
c.3097A>C (p.Asn1033His)
n.5233A>C
6g.52024854A=CA1628646776PKHD1c.4956T= (p.Tyr1652=)
c.4314T= (p.Tyr1438=)
c.4245T= (p.Tyr1415=)
c.4881T= (p.Tyr1627=)
c.4692T= (p.Tyr1564=)
c.3096T= (p.Tyr1032=)
n.5232T=
6g.52024854A>CCA364430411PKHD1c.4956T>G (p.Tyr1652Ter)
c.4314T>G (p.Tyr1438Ter)
c.4245T>G (p.Tyr1415Ter)
c.4881T>G (p.Tyr1627Ter)
c.4692T>G (p.Tyr1564Ter)
c.3096T>G (p.Tyr1032Ter)
n.5232T>G
6g.52024854A>GCA3852637PKHD1c.4956T>C (p.Tyr1652=)
c.4314T>C (p.Tyr1438=)
c.4245T>C (p.Tyr1415=)
c.4881T>C (p.Tyr1627=)
c.4692T>C (p.Tyr1564=)
c.3096T>C (p.Tyr1032=)
n.5232T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024854A>TCA364430415PKHD1c.4956T>A (p.Tyr1652Ter)
c.4314T>A (p.Tyr1438Ter)
c.4245T>A (p.Tyr1415Ter)
c.4881T>A (p.Tyr1627Ter)
c.4692T>A (p.Tyr1564Ter)
c.3096T>A (p.Tyr1032Ter)
n.5232T>A
6g.52024855T>ACA364430417PKHD1c.4955A>T (p.Tyr1652Phe)
c.4313A>T (p.Tyr1438Phe)
c.4244A>T (p.Tyr1415Phe)
c.4880A>T (p.Tyr1627Phe)
c.4691A>T (p.Tyr1564Phe)
c.3095A>T (p.Tyr1032Phe)
n.5231A>T
6g.52024855T>CCA364430420PKHD1c.4955A>G (p.Tyr1652Cys)
c.4313A>G (p.Tyr1438Cys)
c.4244A>G (p.Tyr1415Cys)
c.4880A>G (p.Tyr1627Cys)
c.4691A>G (p.Tyr1564Cys)
c.3095A>G (p.Tyr1032Cys)
n.5231A>G
 gnomAD v4
6g.52024855T>GCA364430423PKHD1c.4955A>C (p.Tyr1652Ser)
c.4313A>C (p.Tyr1438Ser)
c.4244A>C (p.Tyr1415Ser)
c.4880A>C (p.Tyr1627Ser)
c.4691A>C (p.Tyr1564Ser)
c.3095A>C (p.Tyr1032Ser)
n.5231A>C
6g.52024856A>CCA364430430PKHD1c.4954T>G (p.Tyr1652Asp)
c.4312T>G (p.Tyr1438Asp)
c.4243T>G (p.Tyr1415Asp)
c.4879T>G (p.Tyr1627Asp)
c.4690T>G (p.Tyr1564Asp)
c.3094T>G (p.Tyr1032Asp)
n.5230T>G
6g.52024856A>GCA364430432PKHD1c.4954T>C (p.Tyr1652His)
c.4312T>C (p.Tyr1438His)
c.4243T>C (p.Tyr1415His)
c.4879T>C (p.Tyr1627His)
c.4690T>C (p.Tyr1564His)
c.3094T>C (p.Tyr1032His)
n.5230T>C
6g.52024856A>TCA364430434PKHD1c.4954T>A (p.Tyr1652Asn)
c.4312T>A (p.Tyr1438Asn)
c.4243T>A (p.Tyr1415Asn)
c.4879T>A (p.Tyr1627Asn)
c.4690T>A (p.Tyr1564Asn)
c.3094T>A (p.Tyr1032Asn)
n.5230T>A
6g.52024857A>CCA450613897PKHD1c.4953T>G (p.Gly1651=)
c.4311T>G (p.Gly1437=)
c.4242T>G (p.Gly1414=)
c.4878T>G (p.Gly1626=)
c.4689T>G (p.Gly1563=)
c.3093T>G (p.Gly1031=)
n.5229T>G
6g.52024857A>GCA450613898PKHD1c.4953T>C (p.Gly1651=)
c.4311T>C (p.Gly1437=)
c.4242T>C (p.Gly1414=)
c.4878T>C (p.Gly1626=)
c.4689T>C (p.Gly1563=)
c.3093T>C (p.Gly1031=)
n.5229T>C
6g.52024857A>TCA450613899PKHD1c.4953T>A (p.Gly1651=)
c.4311T>A (p.Gly1437=)
c.4242T>A (p.Gly1414=)
c.4878T>A (p.Gly1626=)
c.4689T>A (p.Gly1563=)
c.3093T>A (p.Gly1031=)
n.5229T>A
6g.52024858C>ACA364430440PKHD1c.4952G>T (p.Gly1651Val)
c.4310G>T (p.Gly1437Val)
c.4241G>T (p.Gly1414Val)
c.4877G>T (p.Gly1626Val)
c.4688G>T (p.Gly1563Val)
c.3092G>T (p.Gly1031Val)
n.5228G>T
6g.52024858C=CA1628646784PKHD1c.4952G= (p.Gly1651=)
c.4310G= (p.Gly1437=)
c.4241G= (p.Gly1414=)
c.4877G= (p.Gly1626=)
c.4688G= (p.Gly1563=)
c.3092G= (p.Gly1031=)
n.5228G=
6g.52024858C>GCA364430439PKHD1c.4952G>C (p.Gly1651Ala)
c.4310G>C (p.Gly1437Ala)
c.4241G>C (p.Gly1414Ala)
c.4877G>C (p.Gly1626Ala)
c.4688G>C (p.Gly1563Ala)
c.3092G>C (p.Gly1031Ala)
n.5228G>C
6g.52024858C>TCA364430436PKHD1c.4952G>A (p.Gly1651Asp)
c.4310G>A (p.Gly1437Asp)
c.4241G>A (p.Gly1414Asp)
c.4877G>A (p.Gly1626Asp)
c.4688G>A (p.Gly1563Asp)
c.3092G>A (p.Gly1031Asp)
n.5228G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.52024859delCA2679084932PKHD1c.4952del (p.Gly1651ValfsTer10)
c.4310del (p.Gly1437ValfsTer10)
c.4241del (p.Gly1414ValfsTer10)
c.4877del (p.Gly1626ValfsTer10)
c.4688del (p.Gly1563ValfsTer10)
c.3092del (p.Gly1031ValfsTer10)
n.5228del
 gnomAD v4
6g.52024859C>ACA364430443PKHD1c.4951G>T (p.Gly1651Cys)
c.4309G>T (p.Gly1437Cys)
c.4240G>T (p.Gly1414Cys)
c.4876G>T (p.Gly1626Cys)
c.4687G>T (p.Gly1563Cys)
c.3091G>T (p.Gly1031Cys)
n.5227G>T
 gnomAD v4
6g.52024859C>GCA364430445PKHD1c.4951G>C (p.Gly1651Arg)
c.4309G>C (p.Gly1437Arg)
c.4240G>C (p.Gly1414Arg)
c.4876G>C (p.Gly1626Arg)
c.4687G>C (p.Gly1563Arg)
c.3091G>C (p.Gly1031Arg)
n.5227G>C
6g.52024859C>TCA364430447PKHD1c.4951G>A (p.Gly1651Ser)
c.4309G>A (p.Gly1437Ser)
c.4240G>A (p.Gly1414Ser)
c.4876G>A (p.Gly1626Ser)
c.4687G>A (p.Gly1563Ser)
c.3091G>A (p.Gly1031Ser)
n.5227G>A
6g.52024860A>CCA364430449PKHD1c.4950T>G (p.Ile1650Met)
c.4308T>G (p.Ile1436Met)
c.4239T>G (p.Ile1413Met)
c.4875T>G (p.Ile1625Met)
c.4686T>G (p.Ile1562Met)
c.3090T>G (p.Ile1030Met)
n.5226T>G
6g.52024860A>GCA450613900PKHD1c.4950T>C (p.Ile1650=)
c.4308T>C (p.Ile1436=)
c.4239T>C (p.Ile1413=)
c.4875T>C (p.Ile1625=)
c.4686T>C (p.Ile1562=)
c.3090T>C (p.Ile1030=)
n.5226T>C
6g.52024860A>TCA450613901PKHD1c.4950T>A (p.Ile1650=)
c.4308T>A (p.Ile1436=)
c.4239T>A (p.Ile1413=)
c.4875T>A (p.Ile1625=)
c.4686T>A (p.Ile1562=)
c.3090T>A (p.Ile1030=)
n.5226T>A
6g.52024861A>CCA364430451PKHD1c.4949T>G (p.Ile1650Ser)
c.4307T>G (p.Ile1436Ser)
c.4238T>G (p.Ile1413Ser)
c.4874T>G (p.Ile1625Ser)
c.4685T>G (p.Ile1562Ser)
c.3089T>G (p.Ile1030Ser)
n.5225T>G
6g.52024861A>GCA364430454PKHD1c.4949T>C (p.Ile1650Thr)
c.4307T>C (p.Ile1436Thr)
c.4238T>C (p.Ile1413Thr)
c.4874T>C (p.Ile1625Thr)
c.4685T>C (p.Ile1562Thr)
c.3089T>C (p.Ile1030Thr)
n.5225T>C
6g.52024861A>TCA364430457PKHD1c.4949T>A (p.Ile1650Asn)
c.4307T>A (p.Ile1436Asn)
c.4238T>A (p.Ile1413Asn)
c.4874T>A (p.Ile1625Asn)
c.4685T>A (p.Ile1562Asn)
c.3089T>A (p.Ile1030Asn)
n.5225T>A
6g.52024862T>ACA364430462PKHD1c.4948A>T (p.Ile1650Phe)
c.4306A>T (p.Ile1436Phe)
c.4237A>T (p.Ile1413Phe)
c.4873A>T (p.Ile1625Phe)
c.4684A>T (p.Ile1562Phe)
c.3088A>T (p.Ile1030Phe)
n.5224A>T
 gnomAD v4
6g.52024862T>CCA364430463PKHD1c.4948A>G (p.Ile1650Val)
c.4306A>G (p.Ile1436Val)
c.4237A>G (p.Ile1413Val)
c.4873A>G (p.Ile1625Val)
c.4684A>G (p.Ile1562Val)
c.3088A>G (p.Ile1030Val)
n.5224A>G
6g.52024862T>GCA364430464PKHD1c.4948A>C (p.Ile1650Leu)
c.4306A>C (p.Ile1436Leu)
c.4237A>C (p.Ile1413Leu)
c.4873A>C (p.Ile1625Leu)
c.4684A>C (p.Ile1562Leu)
c.3088A>C (p.Ile1030Leu)
n.5224A>C
6g.52024863G>ACA450613902PKHD1c.4947C>T (p.Val1649=)
c.4305C>T (p.Val1435=)
c.4236C>T (p.Val1412=)
c.4872C>T (p.Val1624=)
c.4683C>T (p.Val1561=)
c.3087C>T (p.Val1029=)
n.5223C>T
6g.52024863G>CCA450613903PKHD1c.4947C>G (p.Val1649=)
c.4305C>G (p.Val1435=)
c.4236C>G (p.Val1412=)
c.4872C>G (p.Val1624=)
c.4683C>G (p.Val1561=)
c.3087C>G (p.Val1029=)
n.5223C>G
 gnomAD v4
6g.52024863G>TCA450613904PKHD1c.4947C>A (p.Val1649=)
c.4305C>A (p.Val1435=)
c.4236C>A (p.Val1412=)
c.4872C>A (p.Val1624=)
c.4683C>A (p.Val1561=)
c.3087C>A (p.Val1029=)
n.5223C>A
6g.52024864A>CCA364430466PKHD1c.4946T>G (p.Val1649Gly)
c.4304T>G (p.Val1435Gly)
c.4235T>G (p.Val1412Gly)
c.4871T>G (p.Val1624Gly)
c.4682T>G (p.Val1561Gly)
c.3086T>G (p.Val1029Gly)
n.5222T>G
6g.52024864A>GCA364430467PKHD1c.4946T>C (p.Val1649Ala)
c.4304T>C (p.Val1435Ala)
c.4235T>C (p.Val1412Ala)
c.4871T>C (p.Val1624Ala)
c.4682T>C (p.Val1561Ala)
c.3086T>C (p.Val1029Ala)
n.5222T>C
 gnomAD v4
6g.52024864A>TCA364430470PKHD1c.4946T>A (p.Val1649Asp)
c.4304T>A (p.Val1435Asp)
c.4235T>A (p.Val1412Asp)
c.4871T>A (p.Val1624Asp)
c.4682T>A (p.Val1561Asp)
c.3086T>A (p.Val1029Asp)
n.5222T>A
6g.52024865C>ACA364430473PKHD1c.4945G>T (p.Val1649Phe)
c.4303G>T (p.Val1435Phe)
c.4234G>T (p.Val1412Phe)
c.4870G>T (p.Val1624Phe)
c.4681G>T (p.Val1561Phe)
c.3085G>T (p.Val1029Phe)
n.5221G>T
6g.52024865C=CA1628646787PKHD1c.4945G= (p.Val1649=)
c.4303G= (p.Val1435=)
c.4234G= (p.Val1412=)
c.4870G= (p.Val1624=)
c.4681G= (p.Val1561=)
c.3085G= (p.Val1029=)
n.5221G=
6g.52024865C>GCA364430476PKHD1c.4945G>C (p.Val1649Leu)
c.4303G>C (p.Val1435Leu)
c.4234G>C (p.Val1412Leu)
c.4870G>C (p.Val1624Leu)
c.4681G>C (p.Val1561Leu)
c.3085G>C (p.Val1029Leu)
n.5221G>C
6g.52024865C>TCA364430472PKHD1c.4945G>A (p.Val1649Ile)
c.4303G>A (p.Val1435Ile)
c.4234G>A (p.Val1412Ile)
c.4870G>A (p.Val1624Ile)
c.4681G>A (p.Val1561Ile)
c.3085G>A (p.Val1029Ile)
n.5221G>A
 dbSNP gnomAD v2 COSMIC COSMIC
6g.52024866T>ACA450613905PKHD1c.4944A>T (p.Gly1648=)
c.4302A>T (p.Gly1434=)
c.4233A>T (p.Gly1411=)
c.4869A>T (p.Gly1623=)
c.4680A>T (p.Gly1560=)
c.3084A>T (p.Gly1028=)
n.5220A>T
 ClinVar gnomAD v4
6g.52024866T>CCA3852638PKHD1c.4944A>G (p.Gly1648=)
c.4302A>G (p.Gly1434=)
c.4233A>G (p.Gly1411=)
c.4869A>G (p.Gly1623=)
c.4680A>G (p.Gly1560=)
c.3084A>G (p.Gly1028=)
n.5220A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024866T>GCA450613906PKHD1c.4944A>C (p.Gly1648=)
c.4302A>C (p.Gly1434=)
c.4233A>C (p.Gly1411=)
c.4869A>C (p.Gly1623=)
c.4680A>C (p.Gly1560=)
c.3084A>C (p.Gly1028=)
n.5220A>C
6g.52024866T=CA1628646793PKHD1c.4944A= (p.Gly1648=)
c.4302A= (p.Gly1434=)
c.4233A= (p.Gly1411=)
c.4869A= (p.Gly1623=)
c.4680A= (p.Gly1560=)
c.3084A= (p.Gly1028=)
n.5220A=
6g.52024867C>ACA364430480PKHD1c.4943G>T (p.Gly1648Val)
c.4301G>T (p.Gly1434Val)
c.4232G>T (p.Gly1411Val)
c.4868G>T (p.Gly1623Val)
c.4679G>T (p.Gly1560Val)
c.3083G>T (p.Gly1028Val)
n.5219G>T
6g.52024867C>GCA364430488PKHD1c.4943G>C (p.Gly1648Ala)
c.4301G>C (p.Gly1434Ala)
c.4232G>C (p.Gly1411Ala)
c.4868G>C (p.Gly1623Ala)
c.4679G>C (p.Gly1560Ala)
c.3083G>C (p.Gly1028Ala)
n.5219G>C
6g.52024867C>TCA364430485PKHD1c.4943G>A (p.Gly1648Glu)
c.4301G>A (p.Gly1434Glu)
c.4232G>A (p.Gly1411Glu)
c.4868G>A (p.Gly1623Glu)
c.4679G>A (p.Gly1560Glu)
c.3083G>A (p.Gly1028Glu)
n.5219G>A
6g.52024868C>ACA364430491PKHD1c.4942G>T (p.Gly1648Ter)
c.4300G>T (p.Gly1434Ter)
c.4231G>T (p.Gly1411Ter)
c.4867G>T (p.Gly1623Ter)
c.4678G>T (p.Gly1560Ter)
c.3082G>T (p.Gly1028Ter)
n.5218G>T
6g.52024868C>GCA364430492PKHD1c.4942G>C (p.Gly1648Arg)
c.4300G>C (p.Gly1434Arg)
c.4231G>C (p.Gly1411Arg)
c.4867G>C (p.Gly1623Arg)
c.4678G>C (p.Gly1560Arg)
c.3082G>C (p.Gly1028Arg)
n.5218G>C
6g.52024868C>TCA364430495PKHD1c.4942G>A (p.Gly1648Arg)
c.4300G>A (p.Gly1434Arg)
c.4231G>A (p.Gly1411Arg)
c.4867G>A (p.Gly1623Arg)
c.4678G>A (p.Gly1560Arg)
c.3082G>A (p.Gly1028Arg)
n.5218G>A
6g.52024869T>ACA450613907PKHD1c.4941A>T (p.Ile1647=)
c.4299A>T (p.Ile1433=)
c.4230A>T (p.Ile1410=)
c.4866A>T (p.Ile1622=)
c.4677A>T (p.Ile1559=)
c.3081A>T (p.Ile1027=)
n.5217A>T
6g.52024869T>CCA364430497PKHD1c.4941A>G (p.Ile1647Met)
c.4299A>G (p.Ile1433Met)
c.4230A>G (p.Ile1410Met)
c.4866A>G (p.Ile1622Met)
c.4677A>G (p.Ile1559Met)
c.3081A>G (p.Ile1027Met)
n.5217A>G
6g.52024869T>GCA450613908PKHD1c.4941A>C (p.Ile1647=)
c.4299A>C (p.Ile1433=)
c.4230A>C (p.Ile1410=)
c.4866A>C (p.Ile1622=)
c.4677A>C (p.Ile1559=)
c.3081A>C (p.Ile1027=)
n.5217A>C
 dbSNP gnomAD v4
6g.52024869T=CA1628646797PKHD1c.4941A= (p.Ile1647=)
c.4299A= (p.Ile1433=)
c.4230A= (p.Ile1410=)
c.4866A= (p.Ile1622=)
c.4677A= (p.Ile1559=)
c.3081A= (p.Ile1027=)
n.5217A=
6g.52024870A=CA1628646800PKHD1c.4940T= (p.Ile1647=)
c.4298T= (p.Ile1433=)
c.4229T= (p.Ile1410=)
c.4865T= (p.Ile1622=)
c.4676T= (p.Ile1559=)
c.3080T= (p.Ile1027=)
n.5216T=
6g.52024870A>CCA364430500PKHD1c.4940T>G (p.Ile1647Arg)
c.4298T>G (p.Ile1433Arg)
c.4229T>G (p.Ile1410Arg)
c.4865T>G (p.Ile1622Arg)
c.4676T>G (p.Ile1559Arg)
c.3080T>G (p.Ile1027Arg)
n.5216T>G
6g.52024870A>GCA3852639PKHD1c.4940T>C (p.Ile1647Thr)
c.4298T>C (p.Ile1433Thr)
c.4229T>C (p.Ile1410Thr)
c.4865T>C (p.Ile1622Thr)
c.4676T>C (p.Ile1559Thr)
c.3080T>C (p.Ile1027Thr)
n.5216T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024870A>TCA364430503PKHD1c.4940T>A (p.Ile1647Lys)
c.4298T>A (p.Ile1433Lys)
c.4229T>A (p.Ile1410Lys)
c.4865T>A (p.Ile1622Lys)
c.4676T>A (p.Ile1559Lys)
c.3080T>A (p.Ile1027Lys)
n.5216T>A
6g.52024871T>ACA364430506PKHD1c.4939A>T (p.Ile1647Leu)
c.4297A>T (p.Ile1433Leu)
c.4228A>T (p.Ile1410Leu)
c.4864A>T (p.Ile1622Leu)
c.4675A>T (p.Ile1559Leu)
c.3079A>T (p.Ile1027Leu)
n.5215A>T
6g.52024871T>CCA364430508PKHD1c.4939A>G (p.Ile1647Val)
c.4297A>G (p.Ile1433Val)
c.4228A>G (p.Ile1410Val)
c.4864A>G (p.Ile1622Val)
c.4675A>G (p.Ile1559Val)
c.3079A>G (p.Ile1027Val)
n.5215A>G
 dbSNP
6g.52024871T>GCA364430510PKHD1c.4939A>C (p.Ile1647Leu)
c.4297A>C (p.Ile1433Leu)
c.4228A>C (p.Ile1410Leu)
c.4864A>C (p.Ile1622Leu)
c.4675A>C (p.Ile1559Leu)
c.3079A>C (p.Ile1027Leu)
n.5215A>C
6g.52024872G>ACA450613909PKHD1c.4938C>T (p.His1646=)
c.4296C>T (p.His1432=)
c.4227C>T (p.His1409=)
c.4863C>T (p.His1621=)
c.4674C>T (p.His1558=)
c.3078C>T (p.His1026=)
n.5214C>T
6g.52024872G>CCA364430517PKHD1c.4938C>G (p.His1646Gln)
c.4296C>G (p.His1432Gln)
c.4227C>G (p.His1409Gln)
c.4863C>G (p.His1621Gln)
c.4674C>G (p.His1558Gln)
c.3078C>G (p.His1026Gln)
n.5214C>G
6g.52024872G>TCA364430518PKHD1c.4938C>A (p.His1646Gln)
c.4296C>A (p.His1432Gln)
c.4227C>A (p.His1409Gln)
c.4863C>A (p.His1621Gln)
c.4674C>A (p.His1558Gln)
c.3078C>A (p.His1026Gln)
n.5214C>A
6g.52024873T>ACA364430526PKHD1c.4937A>T (p.His1646Leu)
c.4295A>T (p.His1432Leu)
c.4226A>T (p.His1409Leu)
c.4862A>T (p.His1621Leu)
c.4673A>T (p.His1558Leu)
c.3077A>T (p.His1026Leu)
n.5213A>T
6g.52024873T>CCA364430522PKHD1c.4937A>G (p.His1646Arg)
c.4295A>G (p.His1432Arg)
c.4226A>G (p.His1409Arg)
c.4862A>G (p.His1621Arg)
c.4673A>G (p.His1558Arg)
c.3077A>G (p.His1026Arg)
n.5213A>G
 gnomAD v4
6g.52024873T>GCA364430525PKHD1c.4937A>C (p.His1646Pro)
c.4295A>C (p.His1432Pro)
c.4226A>C (p.His1409Pro)
c.4862A>C (p.His1621Pro)
c.4673A>C (p.His1558Pro)
c.3077A>C (p.His1026Pro)
n.5213A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52024873T=CA1628646802PKHD1c.4937A= (p.His1646=)
c.4295A= (p.His1432=)
c.4226A= (p.His1409=)
c.4862A= (p.His1621=)
c.4673A= (p.His1558=)
c.3077A= (p.His1026=)
n.5213A=
6g.52024874G>ACA3852640PKHD1c.4936C>T (p.His1646Tyr)
c.4294C>T (p.His1432Tyr)
c.4225C>T (p.His1409Tyr)
c.4861C>T (p.His1621Tyr)
c.4672C>T (p.His1558Tyr)
c.3076C>T (p.His1026Tyr)
n.5212C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024874G>CCA364430530PKHD1c.4936C>G (p.His1646Asp)
c.4294C>G (p.His1432Asp)
c.4225C>G (p.His1409Asp)
c.4861C>G (p.His1621Asp)
c.4672C>G (p.His1558Asp)
c.3076C>G (p.His1026Asp)
n.5212C>G
6g.52024874G=CA1628646806PKHD1c.4936C= (p.His1646=)
c.4294C= (p.His1432=)
c.4225C= (p.His1409=)
c.4861C= (p.His1621=)
c.4672C= (p.His1558=)
c.3076C= (p.His1026=)
n.5212C=
6g.52024874G>TCA364430533PKHD1c.4936C>A (p.His1646Asn)
c.4294C>A (p.His1432Asn)
c.4225C>A (p.His1409Asn)
c.4861C>A (p.His1621Asn)
c.4672C>A (p.His1558Asn)
c.3076C>A (p.His1026Asn)
n.5212C>A
6g.52024875A>CCA364430536PKHD1c.4935T>G (p.Tyr1645Ter)
c.4293T>G (p.Tyr1431Ter)
c.4224T>G (p.Tyr1408Ter)
c.4860T>G (p.Tyr1620Ter)
c.4671T>G (p.Tyr1557Ter)
c.3075T>G (p.Tyr1025Ter)
n.5211T>G
6g.52024875A>GCA450613910PKHD1c.4935T>C (p.Tyr1645=)
c.4293T>C (p.Tyr1431=)
c.4224T>C (p.Tyr1408=)
c.4860T>C (p.Tyr1620=)
c.4671T>C (p.Tyr1557=)
c.3075T>C (p.Tyr1025=)
n.5211T>C
6g.52024875A>TCA364430537PKHD1c.4935T>A (p.Tyr1645Ter)
c.4293T>A (p.Tyr1431Ter)
c.4224T>A (p.Tyr1408Ter)
c.4860T>A (p.Tyr1620Ter)
c.4671T>A (p.Tyr1557Ter)
c.3075T>A (p.Tyr1025Ter)
n.5211T>A
6g.52024876T>ACA364430539PKHD1c.4934A>T (p.Tyr1645Phe)
c.4292A>T (p.Tyr1431Phe)
c.4223A>T (p.Tyr1408Phe)
c.4859A>T (p.Tyr1620Phe)
c.4670A>T (p.Tyr1557Phe)
c.3074A>T (p.Tyr1025Phe)
n.5210A>T
6g.52024876T>CCA364430541PKHD1c.4934A>G (p.Tyr1645Cys)
c.4292A>G (p.Tyr1431Cys)
c.4223A>G (p.Tyr1408Cys)
c.4859A>G (p.Tyr1620Cys)
c.4670A>G (p.Tyr1557Cys)
c.3074A>G (p.Tyr1025Cys)
n.5210A>G
6g.52024876T>GCA364430544PKHD1c.4934A>C (p.Tyr1645Ser)
c.4292A>C (p.Tyr1431Ser)
c.4223A>C (p.Tyr1408Ser)
c.4859A>C (p.Tyr1620Ser)
c.4670A>C (p.Tyr1557Ser)
c.3074A>C (p.Tyr1025Ser)
n.5210A>C
6g.52024877A=CA1628646809PKHD1c.4933T= (p.Tyr1645=)
c.4291T= (p.Tyr1431=)
c.4222T= (p.Tyr1408=)
c.4858T= (p.Tyr1620=)
c.4669T= (p.Tyr1557=)
c.3073T= (p.Tyr1025=)
n.5209T=
6g.52024877A>CCA364430547PKHD1c.4933T>G (p.Tyr1645Asp)
c.4291T>G (p.Tyr1431Asp)
c.4222T>G (p.Tyr1408Asp)
c.4858T>G (p.Tyr1620Asp)
c.4669T>G (p.Tyr1557Asp)
c.3073T>G (p.Tyr1025Asp)
n.5209T>G
6g.52024877A>GCA3852641PKHD1c.4933T>C (p.Tyr1645His)
c.4291T>C (p.Tyr1431His)
c.4222T>C (p.Tyr1408His)
c.4858T>C (p.Tyr1620His)
c.4669T>C (p.Tyr1557His)
c.3073T>C (p.Tyr1025His)
n.5209T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024877A>TCA364430551PKHD1c.4933T>A (p.Tyr1645Asn)
c.4291T>A (p.Tyr1431Asn)
c.4222T>A (p.Tyr1408Asn)
c.4858T>A (p.Tyr1620Asn)
c.4669T>A (p.Tyr1557Asn)
c.3073T>A (p.Tyr1025Asn)
n.5209T>A
6g.52024878C>ACA3852642PKHD1c.4932G>T (p.Trp1644Cys)
c.4290G>T (p.Trp1430Cys)
c.4221G>T (p.Trp1407Cys)
c.4857G>T (p.Trp1619Cys)
c.4668G>T (p.Trp1556Cys)
c.3072G>T (p.Trp1024Cys)
n.5208G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024878C=CA1628646815PKHD1c.4932G= (p.Trp1644=)
c.4290G= (p.Trp1430=)
c.4221G= (p.Trp1407=)
c.4857G= (p.Trp1619=)
c.4668G= (p.Trp1556=)
c.3072G= (p.Trp1024=)
n.5208G=
6g.52024878C>GCA364430555PKHD1c.4932G>C (p.Trp1644Cys)
c.4290G>C (p.Trp1430Cys)
c.4221G>C (p.Trp1407Cys)
c.4857G>C (p.Trp1619Cys)
c.4668G>C (p.Trp1556Cys)
c.3072G>C (p.Trp1024Cys)
n.5208G>C
 gnomAD v4
6g.52024878C>TCA364430553PKHD1c.4932G>A (p.Trp1644Ter)
c.4290G>A (p.Trp1430Ter)
c.4221G>A (p.Trp1407Ter)
c.4857G>A (p.Trp1619Ter)
c.4668G>A (p.Trp1556Ter)
c.3072G>A (p.Trp1024Ter)
n.5208G>A
 ClinVar dbSNP
6g.52024881_52024887delCA2573140959PKHD1c.4926_4932del (p.Leu1643IlefsTer3)
c.4284_4290del (p.Leu1429IlefsTer3)
c.4215_4221del (p.Leu1406IlefsTer3)
c.4851_4857del (p.Leu1618IlefsTer3)
c.4662_4668del (p.Leu1555IlefsTer3)
c.3066_3072del (p.Leu1023IlefsTer3)
n.5202_5208del
 ClinVar dbSNP
6g.52024879C>ACA364430563PKHD1c.4931G>T (p.Trp1644Leu)
c.4289G>T (p.Trp1430Leu)
c.4220G>T (p.Trp1407Leu)
c.4856G>T (p.Trp1619Leu)
c.4667G>T (p.Trp1556Leu)
c.3071G>T (p.Trp1024Leu)
n.5207G>T
6g.52024879C>GCA364430558PKHD1c.4931G>C (p.Trp1644Ser)
c.4289G>C (p.Trp1430Ser)
c.4220G>C (p.Trp1407Ser)
c.4856G>C (p.Trp1619Ser)
c.4667G>C (p.Trp1556Ser)
c.3071G>C (p.Trp1024Ser)
n.5207G>C
6g.52024879C>TCA364430560PKHD1c.4931G>A (p.Trp1644Ter)
c.4289G>A (p.Trp1430Ter)
c.4220G>A (p.Trp1407Ter)
c.4856G>A (p.Trp1619Ter)
c.4667G>A (p.Trp1556Ter)
c.3071G>A (p.Trp1024Ter)
n.5207G>A
 gnomAD v4
6g.52024880A>CCA364430570PKHD1c.4930T>G (p.Trp1644Gly)
c.4288T>G (p.Trp1430Gly)
c.4219T>G (p.Trp1407Gly)
c.4855T>G (p.Trp1619Gly)
c.4666T>G (p.Trp1556Gly)
c.3070T>G (p.Trp1024Gly)
n.5206T>G
6g.52024880A>GCA364430572PKHD1c.4930T>C (p.Trp1644Arg)
c.4288T>C (p.Trp1430Arg)
c.4219T>C (p.Trp1407Arg)
c.4855T>C (p.Trp1619Arg)
c.4666T>C (p.Trp1556Arg)
c.3070T>C (p.Trp1024Arg)
n.5206T>C
 gnomAD v4
6g.52024880A>TCA364430573PKHD1c.4930T>A (p.Trp1644Arg)
c.4288T>A (p.Trp1430Arg)
c.4219T>A (p.Trp1407Arg)
c.4855T>A (p.Trp1619Arg)
c.4666T>A (p.Trp1556Arg)
c.3070T>A (p.Trp1024Arg)
n.5206T>A
6g.52024881A>CCA450613911PKHD1c.4929T>G (p.Leu1643=)
c.4287T>G (p.Leu1429=)
c.4218T>G (p.Leu1406=)
c.4854T>G (p.Leu1618=)
c.4665T>G (p.Leu1555=)
c.3069T>G (p.Leu1023=)
n.5205T>G
6g.52024881A>GCA450613912PKHD1c.4929T>C (p.Leu1643=)
c.4287T>C (p.Leu1429=)
c.4218T>C (p.Leu1406=)
c.4854T>C (p.Leu1618=)
c.4665T>C (p.Leu1555=)
c.3069T>C (p.Leu1023=)
n.5205T>C
6g.52024881A>TCA450613913PKHD1c.4929T>A (p.Leu1643=)
c.4287T>A (p.Leu1429=)
c.4218T>A (p.Leu1406=)
c.4854T>A (p.Leu1618=)
c.4665T>A (p.Leu1555=)
c.3069T>A (p.Leu1023=)
n.5205T>A
6g.52024882A>CCA364430580PKHD1c.4928T>G (p.Leu1643Arg)
c.4286T>G (p.Leu1429Arg)
c.4217T>G (p.Leu1406Arg)
c.4853T>G (p.Leu1618Arg)
c.4664T>G (p.Leu1555Arg)
c.3068T>G (p.Leu1023Arg)
n.5204T>G
6g.52024882A>GCA364430578PKHD1c.4928T>C (p.Leu1643Pro)
c.4286T>C (p.Leu1429Pro)
c.4217T>C (p.Leu1406Pro)
c.4853T>C (p.Leu1618Pro)
c.4664T>C (p.Leu1555Pro)
c.3068T>C (p.Leu1023Pro)
n.5204T>C
6g.52024882A>TCA364430575PKHD1c.4928T>A (p.Leu1643His)
c.4286T>A (p.Leu1429His)
c.4217T>A (p.Leu1406His)
c.4853T>A (p.Leu1618His)
c.4664T>A (p.Leu1555His)
c.3068T>A (p.Leu1023His)
n.5204T>A
6g.52024883G>ACA364430581PKHD1c.4927C>T (p.Leu1643Phe)
c.4285C>T (p.Leu1429Phe)
c.4216C>T (p.Leu1406Phe)
c.4852C>T (p.Leu1618Phe)
c.4663C>T (p.Leu1555Phe)
c.3067C>T (p.Leu1023Phe)
n.5203C>T
6g.52024883G>CCA364430583PKHD1c.4927C>G (p.Leu1643Val)
c.4285C>G (p.Leu1429Val)
c.4216C>G (p.Leu1406Val)
c.4852C>G (p.Leu1618Val)
c.4663C>G (p.Leu1555Val)
c.3067C>G (p.Leu1023Val)
n.5203C>G
6g.52024883G>TCA364430588PKHD1c.4927C>A (p.Leu1643Ile)
c.4285C>A (p.Leu1429Ile)
c.4216C>A (p.Leu1406Ile)
c.4852C>A (p.Leu1618Ile)
c.4663C>A (p.Leu1555Ile)
c.3067C>A (p.Leu1023Ile)
n.5203C>A
6g.52024884T>ACA450613914PKHD1c.4926A>T (p.Gly1642=)
c.4284A>T (p.Gly1428=)
c.4215A>T (p.Gly1405=)
c.4851A>T (p.Gly1617=)
c.4662A>T (p.Gly1554=)
c.3066A>T (p.Gly1022=)
n.5202A>T
6g.52024884T>CCA450613915PKHD1c.4926A>G (p.Gly1642=)
c.4284A>G (p.Gly1428=)
c.4215A>G (p.Gly1405=)
c.4851A>G (p.Gly1617=)
c.4662A>G (p.Gly1554=)
c.3066A>G (p.Gly1022=)
n.5202A>G
6g.52024884T>GCA450613916PKHD1c.4926A>C (p.Gly1642=)
c.4284A>C (p.Gly1428=)
c.4215A>C (p.Gly1405=)
c.4851A>C (p.Gly1617=)
c.4662A>C (p.Gly1554=)
c.3066A>C (p.Gly1022=)
n.5202A>C
6g.52024885C>ACA364430590PKHD1c.4925G>T (p.Gly1642Val)
c.4283G>T (p.Gly1428Val)
c.4214G>T (p.Gly1405Val)
c.4850G>T (p.Gly1617Val)
c.4661G>T (p.Gly1554Val)
c.3065G>T (p.Gly1022Val)
n.5201G>T
6g.52024885C>GCA364430591PKHD1c.4925G>C (p.Gly1642Ala)
c.4283G>C (p.Gly1428Ala)
c.4214G>C (p.Gly1405Ala)
c.4850G>C (p.Gly1617Ala)
c.4661G>C (p.Gly1554Ala)
c.3065G>C (p.Gly1022Ala)
n.5201G>C
6g.52024885C>TCA364430593PKHD1c.4925G>A (p.Gly1642Glu)
c.4283G>A (p.Gly1428Glu)
c.4214G>A (p.Gly1405Glu)
c.4850G>A (p.Gly1617Glu)
c.4661G>A (p.Gly1554Glu)
c.3065G>A (p.Gly1022Glu)
n.5201G>A
6g.52024886C>ACA364430594PKHD1c.4924G>T (p.Gly1642Ter)
c.4282G>T (p.Gly1428Ter)
c.4213G>T (p.Gly1405Ter)
c.4849G>T (p.Gly1617Ter)
c.4660G>T (p.Gly1554Ter)
c.3064G>T (p.Gly1022Ter)
n.5200G>T
6g.52024886C>GCA364430597PKHD1c.4924G>C (p.Gly1642Arg)
c.4282G>C (p.Gly1428Arg)
c.4213G>C (p.Gly1405Arg)
c.4849G>C (p.Gly1617Arg)
c.4660G>C (p.Gly1554Arg)
c.3064G>C (p.Gly1022Arg)
n.5200G>C
6g.52024886C>TCA364430596PKHD1c.4924G>A (p.Gly1642Arg)
c.4282G>A (p.Gly1428Arg)
c.4213G>A (p.Gly1405Arg)
c.4849G>A (p.Gly1617Arg)
c.4660G>A (p.Gly1554Arg)
c.3064G>A (p.Gly1022Arg)
n.5200G>A
6g.52024887A=CA1628646817PKHD1c.4923T= (p.Asp1641=)
c.4281T= (p.Asp1427=)
c.4212T= (p.Asp1404=)
c.4848T= (p.Asp1616=)
c.4659T= (p.Asp1553=)
c.3063T= (p.Asp1021=)
n.5199T=
6g.52024887A>CCA364430599PKHD1c.4923T>G (p.Asp1641Glu)
c.4281T>G (p.Asp1427Glu)
c.4212T>G (p.Asp1404Glu)
c.4848T>G (p.Asp1616Glu)
c.4659T>G (p.Asp1553Glu)
c.3063T>G (p.Asp1021Glu)
n.5199T>G
6g.52024887A>GCA450613917PKHD1c.4923T>C (p.Asp1641=)
c.4281T>C (p.Asp1427=)
c.4212T>C (p.Asp1404=)
c.4848T>C (p.Asp1616=)
c.4659T>C (p.Asp1553=)
c.3063T>C (p.Asp1021=)
n.5199T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.52024887A>TCA364430602PKHD1c.4923T>A (p.Asp1641Glu)
c.4281T>A (p.Asp1427Glu)
c.4212T>A (p.Asp1404Glu)
c.4848T>A (p.Asp1616Glu)
c.4659T>A (p.Asp1553Glu)
c.3063T>A (p.Asp1021Glu)
n.5199T>A
6g.52024888T>ACA364430607PKHD1c.4922A>T (p.Asp1641Val)
c.4280A>T (p.Asp1427Val)
c.4211A>T (p.Asp1404Val)
c.4847A>T (p.Asp1616Val)
c.4658A>T (p.Asp1553Val)
c.3062A>T (p.Asp1021Val)
n.5198A>T
6g.52024888T>CCA364430608PKHD1c.4922A>G (p.Asp1641Gly)
c.4280A>G (p.Asp1427Gly)
c.4211A>G (p.Asp1404Gly)
c.4847A>G (p.Asp1616Gly)
c.4658A>G (p.Asp1553Gly)
c.3062A>G (p.Asp1021Gly)
n.5198A>G
6g.52024888T>GCA364430610PKHD1c.4922A>C (p.Asp1641Ala)
c.4280A>C (p.Asp1427Ala)
c.4211A>C (p.Asp1404Ala)
c.4847A>C (p.Asp1616Ala)
c.4658A>C (p.Asp1553Ala)
c.3062A>C (p.Asp1021Ala)
n.5198A>C
6g.52024889C>ACA364430613PKHD1c.4921G>T (p.Asp1641Tyr)
c.4279G>T (p.Asp1427Tyr)
c.4210G>T (p.Asp1404Tyr)
c.4846G>T (p.Asp1616Tyr)
c.4657G>T (p.Asp1553Tyr)
c.3061G>T (p.Asp1021Tyr)
n.5197G>T
6g.52024889C>GCA364430615PKHD1c.4921G>C (p.Asp1641His)
c.4279G>C (p.Asp1427His)
c.4210G>C (p.Asp1404His)
c.4846G>C (p.Asp1616His)
c.4657G>C (p.Asp1553His)
c.3061G>C (p.Asp1021His)
n.5197G>C
 gnomAD v4 COSMIC COSMIC
6g.52024889C>TCA364430617PKHD1c.4921G>A (p.Asp1641Asn)
c.4279G>A (p.Asp1427Asn)
c.4210G>A (p.Asp1404Asn)
c.4846G>A (p.Asp1616Asn)
c.4657G>A (p.Asp1553Asn)
c.3061G>A (p.Asp1021Asn)
n.5197G>A
 ClinVar
6g.52024890T>ACA450613918PKHD1c.4920A>T (p.Val1640=)
c.4278A>T (p.Val1426=)
c.4209A>T (p.Val1403=)
c.4845A>T (p.Val1615=)
c.4656A>T (p.Val1552=)
c.3060A>T (p.Val1020=)
n.5196A>T
 ClinVar
6g.52024890T>CCA244189PKHD1c.4920A>G (p.Val1640=)
c.4278A>G (p.Val1426=)
c.4209A>G (p.Val1403=)
c.4845A>G (p.Val1615=)
c.4656A>G (p.Val1552=)
c.3060A>G (p.Val1020=)
n.5196A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024890T>GCA450613919PKHD1c.4920A>C (p.Val1640=)
c.4278A>C (p.Val1426=)
c.4209A>C (p.Val1403=)
c.4845A>C (p.Val1615=)
c.4656A>C (p.Val1552=)
c.3060A>C (p.Val1020=)
n.5196A>C
6g.52024890T=CA1628646823PKHD1c.4920A= (p.Val1640=)
c.4278A= (p.Val1426=)
c.4209A= (p.Val1403=)
c.4845A= (p.Val1615=)
c.4656A= (p.Val1552=)
c.3060A= (p.Val1020=)
n.5196A=
6g.52024891A>CCA364430621PKHD1c.4919T>G (p.Val1640Gly)
c.4277T>G (p.Val1426Gly)
c.4208T>G (p.Val1403Gly)
c.4844T>G (p.Val1615Gly)
c.4655T>G (p.Val1552Gly)
c.3059T>G (p.Val1020Gly)
n.5195T>G
6g.52024891A>GCA364430623PKHD1c.4919T>C (p.Val1640Ala)
c.4277T>C (p.Val1426Ala)
c.4208T>C (p.Val1403Ala)
c.4844T>C (p.Val1615Ala)
c.4655T>C (p.Val1552Ala)
c.3059T>C (p.Val1020Ala)
n.5195T>C
6g.52024891A>TCA364430625PKHD1c.4919T>A (p.Val1640Glu)
c.4277T>A (p.Val1426Glu)
c.4208T>A (p.Val1403Glu)
c.4844T>A (p.Val1615Glu)
c.4655T>A (p.Val1552Glu)
c.3059T>A (p.Val1020Glu)
n.5195T>A
6g.52024892C>ACA364430629PKHD1c.4918G>T (p.Val1640Leu)
c.4276G>T (p.Val1426Leu)
c.4207G>T (p.Val1403Leu)
c.4843G>T (p.Val1615Leu)
c.4654G>T (p.Val1552Leu)
c.3058G>T (p.Val1020Leu)
n.5194G>T
6g.52024892C=CA1628646829PKHD1c.4918G= (p.Val1640=)
c.4276G= (p.Val1426=)
c.4207G= (p.Val1403=)
c.4843G= (p.Val1615=)
c.4654G= (p.Val1552=)
c.3058G= (p.Val1020=)
n.5194G=
6g.52024892C>GCA364430630PKHD1c.4918G>C (p.Val1640Leu)
c.4276G>C (p.Val1426Leu)
c.4207G>C (p.Val1403Leu)
c.4843G>C (p.Val1615Leu)
c.4654G>C (p.Val1552Leu)
c.3058G>C (p.Val1020Leu)
n.5194G>C
6g.52024892C>TCA364430626PKHD1c.4918G>A (p.Val1640Ile)
c.4276G>A (p.Val1426Ile)
c.4207G>A (p.Val1403Ile)
c.4843G>A (p.Val1615Ile)
c.4654G>A (p.Val1552Ile)
c.3058G>A (p.Val1020Ile)
n.5194G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.52024893C>ACA364430632PKHD1c.4917G>T (p.Glu1639Asp)
c.4275G>T (p.Glu1425Asp)
c.4206G>T (p.Glu1402Asp)
c.4842G>T (p.Glu1614Asp)
c.4653G>T (p.Glu1551Asp)
c.3057G>T (p.Glu1019Asp)
n.5193G>T
6g.52024893C>GCA364430633PKHD1c.4917G>C (p.Glu1639Asp)
c.4275G>C (p.Glu1425Asp)
c.4206G>C (p.Glu1402Asp)
c.4842G>C (p.Glu1614Asp)
c.4653G>C (p.Glu1551Asp)
c.3057G>C (p.Glu1019Asp)
n.5193G>C
6g.52024893C>TCA450613920PKHD1c.4917G>A (p.Glu1639=)
c.4275G>A (p.Glu1425=)
c.4206G>A (p.Glu1402=)
c.4842G>A (p.Glu1614=)
c.4653G>A (p.Glu1551=)
c.3057G>A (p.Glu1019=)
n.5193G>A
6g.52024894T>ACA364430638PKHD1c.4916A>T (p.Glu1639Val)
c.4274A>T (p.Glu1425Val)
c.4205A>T (p.Glu1402Val)
c.4841A>T (p.Glu1614Val)
c.4652A>T (p.Glu1551Val)
c.3056A>T (p.Glu1019Val)
n.5192A>T
6g.52024894T>CCA364430640PKHD1c.4916A>G (p.Glu1639Gly)
c.4274A>G (p.Glu1425Gly)
c.4205A>G (p.Glu1402Gly)
c.4841A>G (p.Glu1614Gly)
c.4652A>G (p.Glu1551Gly)
c.3056A>G (p.Glu1019Gly)
n.5192A>G
6g.52024894T>GCA364430643PKHD1c.4916A>C (p.Glu1639Ala)
c.4274A>C (p.Glu1425Ala)
c.4205A>C (p.Glu1402Ala)
c.4841A>C (p.Glu1614Ala)
c.4652A>C (p.Glu1551Ala)
c.3056A>C (p.Glu1019Ala)
n.5192A>C
6g.52024895C>ACA364430645PKHD1c.4915G>T (p.Glu1639Ter)
c.4273G>T (p.Glu1425Ter)
c.4204G>T (p.Glu1402Ter)
c.4840G>T (p.Glu1614Ter)
c.4651G>T (p.Glu1551Ter)
c.3055G>T (p.Glu1019Ter)
n.5191G>T
6g.52024895C>GCA364430647PKHD1c.4915G>C (p.Glu1639Gln)
c.4273G>C (p.Glu1425Gln)
c.4204G>C (p.Glu1402Gln)
c.4840G>C (p.Glu1614Gln)
c.4651G>C (p.Glu1551Gln)
c.3055G>C (p.Glu1019Gln)
n.5191G>C
6g.52024895C>TCA364430650PKHD1c.4915G>A (p.Glu1639Lys)
c.4273G>A (p.Glu1425Lys)
c.4204G>A (p.Glu1402Lys)
c.4840G>A (p.Glu1614Lys)
c.4651G>A (p.Glu1551Lys)
c.3055G>A (p.Glu1019Lys)
n.5191G>A
6g.52024896T>ACA450613921PKHD1c.4914A>T (p.Ile1638=)
c.4272A>T (p.Ile1424=)
c.4203A>T (p.Ile1401=)
c.4839A>T (p.Ile1613=)
c.4650A>T (p.Ile1550=)
c.3054A>T (p.Ile1018=)
n.5190A>T
6g.52024896T>CCA364430652PKHD1c.4914A>G (p.Ile1638Met)
c.4272A>G (p.Ile1424Met)
c.4203A>G (p.Ile1401Met)
c.4839A>G (p.Ile1613Met)
c.4650A>G (p.Ile1550Met)
c.3054A>G (p.Ile1018Met)
n.5190A>G
6g.52024896T>GCA450613922PKHD1c.4914A>C (p.Ile1638=)
c.4272A>C (p.Ile1424=)
c.4203A>C (p.Ile1401=)
c.4839A>C (p.Ile1613=)
c.4650A>C (p.Ile1550=)
c.3054A>C (p.Ile1018=)
n.5190A>C
 ClinVar
6g.52024897A>CCA364430655PKHD1c.4913T>G (p.Ile1638Arg)
c.4271T>G (p.Ile1424Arg)
c.4202T>G (p.Ile1401Arg)
c.4838T>G (p.Ile1613Arg)
c.4649T>G (p.Ile1550Arg)
c.3053T>G (p.Ile1018Arg)
n.5189T>G
6g.52024897A>GCA364430657PKHD1c.4913T>C (p.Ile1638Thr)
c.4271T>C (p.Ile1424Thr)
c.4202T>C (p.Ile1401Thr)
c.4838T>C (p.Ile1613Thr)
c.4649T>C (p.Ile1550Thr)
c.3053T>C (p.Ile1018Thr)
n.5189T>C
 gnomAD v4
6g.52024897A>TCA364430658PKHD1c.4913T>A (p.Ile1638Lys)
c.4271T>A (p.Ile1424Lys)
c.4202T>A (p.Ile1401Lys)
c.4838T>A (p.Ile1613Lys)
c.4649T>A (p.Ile1550Lys)
c.3053T>A (p.Ile1018Lys)
n.5189T>A
6g.52024898T>ACA364430662PKHD1c.4912A>T (p.Ile1638Leu)
c.4270A>T (p.Ile1424Leu)
c.4201A>T (p.Ile1401Leu)
c.4837A>T (p.Ile1613Leu)
c.4648A>T (p.Ile1550Leu)
c.3052A>T (p.Ile1018Leu)
n.5188A>T
6g.52024898T>CCA364430663PKHD1c.4912A>G (p.Ile1638Val)
c.4270A>G (p.Ile1424Val)
c.4201A>G (p.Ile1401Val)
c.4837A>G (p.Ile1613Val)
c.4648A>G (p.Ile1550Val)
c.3052A>G (p.Ile1018Val)
n.5188A>G
6g.52024898T>GCA364430668PKHD1c.4912A>C (p.Ile1638Leu)
c.4270A>C (p.Ile1424Leu)
c.4201A>C (p.Ile1401Leu)
c.4837A>C (p.Ile1613Leu)
c.4648A>C (p.Ile1550Leu)
c.3052A>C (p.Ile1018Leu)
n.5188A>C
6g.52024899T>ACA364430671PKHD1c.4911A>T (p.Glu1637Asp)
c.4269A>T (p.Glu1423Asp)
c.4200A>T (p.Glu1400Asp)
c.4836A>T (p.Glu1612Asp)
c.4647A>T (p.Glu1549Asp)
c.3051A>T (p.Glu1017Asp)
n.5187A>T
6g.52024899T>CCA450613923PKHD1c.4911A>G (p.Glu1637=)
c.4269A>G (p.Glu1423=)
c.4200A>G (p.Glu1400=)
c.4836A>G (p.Glu1612=)
c.4647A>G (p.Glu1549=)
c.3051A>G (p.Glu1017=)
n.5187A>G
 gnomAD v4
6g.52024899T>GCA364430673PKHD1c.4911A>C (p.Glu1637Asp)
c.4269A>C (p.Glu1423Asp)
c.4200A>C (p.Glu1400Asp)
c.4836A>C (p.Glu1612Asp)
c.4647A>C (p.Glu1549Asp)
c.3051A>C (p.Glu1017Asp)
n.5187A>C
6g.52024900T>ACA364430676PKHD1c.4910A>T (p.Glu1637Val)
c.4268A>T (p.Glu1423Val)
c.4199A>T (p.Glu1400Val)
c.4835A>T (p.Glu1612Val)
c.4646A>T (p.Glu1549Val)
c.3050A>T (p.Glu1017Val)
n.5186A>T
6g.52024900T>CCA364430679PKHD1c.4910A>G (p.Glu1637Gly)
c.4268A>G (p.Glu1423Gly)
c.4199A>G (p.Glu1400Gly)
c.4835A>G (p.Glu1612Gly)
c.4646A>G (p.Glu1549Gly)
c.3050A>G (p.Glu1017Gly)
n.5186A>G
6g.52024900T>GCA364430680PKHD1c.4910A>C (p.Glu1637Ala)
c.4268A>C (p.Glu1423Ala)
c.4199A>C (p.Glu1400Ala)
c.4835A>C (p.Glu1612Ala)
c.4646A>C (p.Glu1549Ala)
c.3050A>C (p.Glu1017Ala)
n.5186A>C
6g.52024901C>ACA364430682PKHD1c.4909G>T (p.Glu1637Ter)
c.4267G>T (p.Glu1423Ter)
c.4198G>T (p.Glu1400Ter)
c.4834G>T (p.Glu1612Ter)
c.4645G>T (p.Glu1549Ter)
c.3049G>T (p.Glu1017Ter)
n.5185G>T
6g.52024901C>GCA364430683PKHD1c.4909G>C (p.Glu1637Gln)
c.4267G>C (p.Glu1423Gln)
c.4198G>C (p.Glu1400Gln)
c.4834G>C (p.Glu1612Gln)
c.4645G>C (p.Glu1549Gln)
c.3049G>C (p.Glu1017Gln)
n.5185G>C
6g.52024901C>TCA364430686PKHD1c.4909G>A (p.Glu1637Lys)
c.4267G>A (p.Glu1423Lys)
c.4198G>A (p.Glu1400Lys)
c.4834G>A (p.Glu1612Lys)
c.4645G>A (p.Glu1549Lys)
c.3049G>A (p.Glu1017Lys)
n.5185G>A
 COSMIC COSMIC
6g.52024902C>ACA450613924PKHD1c.4908G>T (p.Leu1636=)
c.4266G>T (p.Leu1422=)
c.4197G>T (p.Leu1399=)
c.4833G>T (p.Leu1611=)
c.4644G>T (p.Leu1548=)
c.3048G>T (p.Leu1016=)
n.5184G>T
6g.52024902C>GCA450613925PKHD1c.4908G>C (p.Leu1636=)
c.4266G>C (p.Leu1422=)
c.4197G>C (p.Leu1399=)
c.4833G>C (p.Leu1611=)
c.4644G>C (p.Leu1548=)
c.3048G>C (p.Leu1016=)
n.5184G>C
6g.52024902C>TCA450613926PKHD1c.4908G>A (p.Leu1636=)
c.4266G>A (p.Leu1422=)
c.4197G>A (p.Leu1399=)
c.4833G>A (p.Leu1611=)
c.4644G>A (p.Leu1548=)
c.3048G>A (p.Leu1016=)
n.5184G>A
 COSMIC COSMIC
6g.52024903A>CCA364430688PKHD1c.4907T>G (p.Leu1636Arg)
c.4265T>G (p.Leu1422Arg)
c.4196T>G (p.Leu1399Arg)
c.4832T>G (p.Leu1611Arg)
c.4643T>G (p.Leu1548Arg)
c.3047T>G (p.Leu1016Arg)
n.5183T>G
6g.52024903A>GCA364430690PKHD1c.4907T>C (p.Leu1636Pro)
c.4265T>C (p.Leu1422Pro)
c.4196T>C (p.Leu1399Pro)
c.4832T>C (p.Leu1611Pro)
c.4643T>C (p.Leu1548Pro)
c.3047T>C (p.Leu1016Pro)
n.5183T>C
6g.52024903A>TCA364430693PKHD1c.4907T>A (p.Leu1636Gln)
c.4265T>A (p.Leu1422Gln)
c.4196T>A (p.Leu1399Gln)
c.4832T>A (p.Leu1611Gln)
c.4643T>A (p.Leu1548Gln)
c.3047T>A (p.Leu1016Gln)
n.5183T>A
6g.52024904G>ACA450613927PKHD1c.4906C>T (p.Leu1636=)
c.4264C>T (p.Leu1422=)
c.4195C>T (p.Leu1399=)
c.4831C>T (p.Leu1611=)
c.4642C>T (p.Leu1548=)
c.3046C>T (p.Leu1016=)
n.5182C>T
6g.52024904G>CCA364430695PKHD1c.4906C>G (p.Leu1636Val)
c.4264C>G (p.Leu1422Val)
c.4195C>G (p.Leu1399Val)
c.4831C>G (p.Leu1611Val)
c.4642C>G (p.Leu1548Val)
c.3046C>G (p.Leu1016Val)
n.5182C>G
6g.52024904G>TCA364430697PKHD1c.4906C>A (p.Leu1636Met)
c.4264C>A (p.Leu1422Met)
c.4195C>A (p.Leu1399Met)
c.4831C>A (p.Leu1611Met)
c.4642C>A (p.Leu1548Met)
c.3046C>A (p.Leu1016Met)
n.5182C>A
6g.52024905G>ACA450613928PKHD1c.4905C>T (p.Ala1635=)
c.4263C>T (p.Ala1421=)
c.4194C>T (p.Ala1398=)
c.4830C>T (p.Ala1610=)
c.4641C>T (p.Ala1547=)
c.3045C>T (p.Ala1015=)
n.5181C>T
6g.52024905G>CCA450613929PKHD1c.4905C>G (p.Ala1635=)
c.4263C>G (p.Ala1421=)
c.4194C>G (p.Ala1398=)
c.4830C>G (p.Ala1610=)
c.4641C>G (p.Ala1547=)
c.3045C>G (p.Ala1015=)
n.5181C>G
6g.52024905G>TCA450613930PKHD1c.4905C>A (p.Ala1635=)
c.4263C>A (p.Ala1421=)
c.4194C>A (p.Ala1398=)
c.4830C>A (p.Ala1610=)
c.4641C>A (p.Ala1547=)
c.3045C>A (p.Ala1015=)
n.5181C>A
6g.52024906G>ACA364430704PKHD1c.4904C>T (p.Ala1635Val)
c.4262C>T (p.Ala1421Val)
c.4193C>T (p.Ala1398Val)
c.4829C>T (p.Ala1610Val)
c.4640C>T (p.Ala1547Val)
c.3044C>T (p.Ala1015Val)
n.5180C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52024906G>CCA364430708PKHD1c.4904C>G (p.Ala1635Gly)
c.4262C>G (p.Ala1421Gly)
c.4193C>G (p.Ala1398Gly)
c.4829C>G (p.Ala1610Gly)
c.4640C>G (p.Ala1547Gly)
c.3044C>G (p.Ala1015Gly)
n.5180C>G
6g.52024906G=CA1628646834PKHD1c.4904C= (p.Ala1635=)
c.4262C= (p.Ala1421=)
c.4193C= (p.Ala1398=)
c.4829C= (p.Ala1610=)
c.4640C= (p.Ala1547=)
c.3044C= (p.Ala1015=)
n.5180C=
6g.52024906G>TCA364430700PKHD1c.4904C>A (p.Ala1635Asp)
c.4262C>A (p.Ala1421Asp)
c.4193C>A (p.Ala1398Asp)
c.4829C>A (p.Ala1610Asp)
c.4640C>A (p.Ala1547Asp)
c.3044C>A (p.Ala1015Asp)
n.5180C>A
6g.52024907C>ACA364430713PKHD1c.4903G>T (p.Ala1635Ser)
c.4261G>T (p.Ala1421Ser)
c.4192G>T (p.Ala1398Ser)
c.4828G>T (p.Ala1610Ser)
c.4639G>T (p.Ala1547Ser)
c.3043G>T (p.Ala1015Ser)
n.5179G>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52024907C=CA1628646839PKHD1c.4903G= (p.Ala1635=)
c.4261G= (p.Ala1421=)
c.4192G= (p.Ala1398=)
c.4828G= (p.Ala1610=)
c.4639G= (p.Ala1547=)
c.3043G= (p.Ala1015=)
n.5179G=
6g.52024907C>GCA364430714PKHD1c.4903G>C (p.Ala1635Pro)
c.4261G>C (p.Ala1421Pro)
c.4192G>C (p.Ala1398Pro)
c.4828G>C (p.Ala1610Pro)
c.4639G>C (p.Ala1547Pro)
c.3043G>C (p.Ala1015Pro)
n.5179G>C
6g.52024907C>TCA364430716PKHD1c.4903G>A (p.Ala1635Thr)
c.4261G>A (p.Ala1421Thr)
c.4192G>A (p.Ala1398Thr)
c.4828G>A (p.Ala1610Thr)
c.4639G>A (p.Ala1547Thr)
c.3043G>A (p.Ala1015Thr)
n.5179G>A
6g.52024908A>CCA450613931PKHD1c.4902T>G (p.Val1634=)
c.4260T>G (p.Val1420=)
c.4191T>G (p.Val1397=)
c.4827T>G (p.Val1609=)
c.4638T>G (p.Val1546=)
c.3042T>G (p.Val1014=)
n.5178T>G
 gnomAD v4
6g.52024908A>GCA450613932PKHD1c.4902T>C (p.Val1634=)
c.4260T>C (p.Val1420=)
c.4191T>C (p.Val1397=)
c.4827T>C (p.Val1609=)
c.4638T>C (p.Val1546=)
c.3042T>C (p.Val1014=)
n.5178T>C
 dbSNP
6g.52024908A>TCA450613933PKHD1c.4902T>A (p.Val1634=)
c.4260T>A (p.Val1420=)
c.4191T>A (p.Val1397=)
c.4827T>A (p.Val1609=)
c.4638T>A (p.Val1546=)
c.3042T>A (p.Val1014=)
n.5178T>A
6g.52024909A>CCA364430718PKHD1c.4901T>G (p.Val1634Gly)
c.4259T>G (p.Val1420Gly)
c.4190T>G (p.Val1397Gly)
c.4826T>G (p.Val1609Gly)
c.4637T>G (p.Val1546Gly)
c.3041T>G (p.Val1014Gly)
n.5177T>G
6g.52024909A>GCA364430719PKHD1c.4901T>C (p.Val1634Ala)
c.4259T>C (p.Val1420Ala)
c.4190T>C (p.Val1397Ala)
c.4826T>C (p.Val1609Ala)
c.4637T>C (p.Val1546Ala)
c.3041T>C (p.Val1014Ala)
n.5177T>C
 gnomAD v4
6g.52024909A>TCA364430720PKHD1c.4901T>A (p.Val1634Asp)
c.4259T>A (p.Val1420Asp)
c.4190T>A (p.Val1397Asp)
c.4826T>A (p.Val1609Asp)
c.4637T>A (p.Val1546Asp)
c.3041T>A (p.Val1014Asp)
n.5177T>A
6g.52024910C>ACA364430724PKHD1c.4900G>T (p.Val1634Phe)
c.4258G>T (p.Val1420Phe)
c.4189G>T (p.Val1397Phe)
c.4825G>T (p.Val1609Phe)
c.4636G>T (p.Val1546Phe)
c.3040G>T (p.Val1014Phe)
n.5176G>T
6g.52024910C>GCA364430727PKHD1c.4900G>C (p.Val1634Leu)
c.4258G>C (p.Val1420Leu)
c.4189G>C (p.Val1397Leu)
c.4825G>C (p.Val1609Leu)
c.4636G>C (p.Val1546Leu)
c.3040G>C (p.Val1014Leu)
n.5176G>C
6g.52024910C>TCA364430729PKHD1c.4900G>A (p.Val1634Ile)
c.4258G>A (p.Val1420Ile)
c.4189G>A (p.Val1397Ile)
c.4825G>A (p.Val1609Ile)
c.4636G>A (p.Val1546Ile)
c.3040G>A (p.Val1014Ile)
n.5176G>A
6g.52024911A>CCA450613934PKHD1c.4899T>G (p.Ser1633=)
c.4257T>G (p.Ser1419=)
c.4188T>G (p.Ser1396=)
c.4824T>G (p.Ser1608=)
c.4635T>G (p.Ser1545=)
c.3039T>G (p.Ser1013=)
n.5175T>G
6g.52024911A>GCA450613935PKHD1c.4899T>C (p.Ser1633=)
c.4257T>C (p.Ser1419=)
c.4188T>C (p.Ser1396=)
c.4824T>C (p.Ser1608=)
c.4635T>C (p.Ser1545=)
c.3039T>C (p.Ser1013=)
n.5175T>C
 ClinVar dbSNP
6g.52024911A>TCA450613936PKHD1c.4899T>A (p.Ser1633=)
c.4257T>A (p.Ser1419=)
c.4188T>A (p.Ser1396=)
c.4824T>A (p.Ser1608=)
c.4635T>A (p.Ser1545=)
c.3039T>A (p.Ser1013=)
n.5175T>A
6g.52024912G>ACA3852643PKHD1c.4898C>T (p.Ser1633Phe)
c.4256C>T (p.Ser1419Phe)
c.4187C>T (p.Ser1396Phe)
c.4823C>T (p.Ser1608Phe)
c.4634C>T (p.Ser1545Phe)
c.3038C>T (p.Ser1013Phe)
n.5174C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.52024912G>CCA364430732PKHD1c.4898C>G (p.Ser1633Cys)
c.4256C>G (p.Ser1419Cys)
c.4187C>G (p.Ser1396Cys)
c.4823C>G (p.Ser1608Cys)
c.4634C>G (p.Ser1545Cys)
c.3038C>G (p.Ser1013Cys)
n.5174C>G
6g.52024912G=CA1628646842PKHD1c.4898C= (p.Ser1633=)
c.4256C= (p.Ser1419=)
c.4187C= (p.Ser1396=)
c.4823C= (p.Ser1608=)
c.4634C= (p.Ser1545=)
c.3038C= (p.Ser1013=)
n.5174C=
6g.52024912G>TCA364430736PKHD1c.4898C>A (p.Ser1633Tyr)
c.4256C>A (p.Ser1419Tyr)
c.4187C>A (p.Ser1396Tyr)
c.4823C>A (p.Ser1608Tyr)
c.4634C>A (p.Ser1545Tyr)
c.3038C>A (p.Ser1013Tyr)
n.5174C>A
6g.52024913A=CA1628646846PKHD1c.4897T= (p.Ser1633=)
c.4255T= (p.Ser1419=)
c.4186T= (p.Ser1396=)
c.4822T= (p.Ser1608=)
c.4633T= (p.Ser1545=)
c.3037T= (p.Ser1013=)
n.5173T=
6g.52024913A>CCA364430744PKHD1c.4897T>G (p.Ser1633Ala)
c.4255T>G (p.Ser1419Ala)
c.4186T>G (p.Ser1396Ala)
c.4822T>G (p.Ser1608Ala)
c.4633T>G (p.Ser1545Ala)
c.3037T>G (p.Ser1013Ala)
n.5173T>G
6g.52024913A>GCA364430746PKHD1c.4897T>C (p.Ser1633Pro)
c.4255T>C (p.Ser1419Pro)
c.4186T>C (p.Ser1396Pro)
c.4822T>C (p.Ser1608Pro)
c.4633T>C (p.Ser1545Pro)
c.3037T>C (p.Ser1013Pro)
n.5173T>C
 dbSNP gnomAD v3 gnomAD v4
6g.52024913A>TCA364430742PKHD1c.4897T>A (p.Ser1633Thr)
c.4255T>A (p.Ser1419Thr)
c.4186T>A (p.Ser1396Thr)
c.4822T>A (p.Ser1608Thr)
c.4633T>A (p.Ser1545Thr)
c.3037T>A (p.Ser1013Thr)
n.5173T>A
6g.52024914G>ACA450613938PKHD1c.4896C>T (p.Gly1632=)
c.4254C>T (p.Gly1418=)
c.4185C>T (p.Gly1395=)
c.4821C>T (p.Gly1607=)
c.4632C>T (p.Gly1544=)
c.3036C>T (p.Gly1012=)
n.5172C>T
6g.52024914G>CCA450613939PKHD1c.4896C>G (p.Gly1632=)
c.4254C>G (p.Gly1418=)
c.4185C>G (p.Gly1395=)
c.4821C>G (p.Gly1607=)
c.4632C>G (p.Gly1544=)
c.3036C>G (p.Gly1012=)
n.5172C>G
6g.52024914G>TCA450613937PKHD1c.4896C>A (p.Gly1632=)
c.4254C>A (p.Gly1418=)
c.4185C>A (p.Gly1395=)
c.4821C>A (p.Gly1607=)
c.4632C>A (p.Gly1544=)
c.3036C>A (p.Gly1012=)
n.5172C>A
6g.52024915C>ACA364430749PKHD1c.4895G>T (p.Gly1632Val)
c.4253G>T (p.Gly1418Val)
c.4184G>T (p.Gly1395Val)
c.4820G>T (p.Gly1607Val)
c.4631G>T (p.Gly1544Val)
c.3035G>T (p.Gly1012Val)
n.5171G>T
6g.52024915C=CA1628646851PKHD1c.4895G= (p.Gly1632=)
c.4253G= (p.Gly1418=)
c.4184G= (p.Gly1395=)
c.4820G= (p.Gly1607=)
c.4631G= (p.Gly1544=)
c.3035G= (p.Gly1012=)
n.5171G=
6g.52024915C>GCA364430753PKHD1c.4895G>C (p.Gly1632Ala)
c.4253G>C (p.Gly1418Ala)
c.4184G>C (p.Gly1395Ala)
c.4820G>C (p.Gly1607Ala)
c.4631G>C (p.Gly1544Ala)
c.3035G>C (p.Gly1012Ala)
n.5171G>C
6g.52024915C>TCA3852644PKHD1c.4895G>A (p.Gly1632Asp)
c.4253G>A (p.Gly1418Asp)
c.4184G>A (p.Gly1395Asp)
c.4820G>A (p.Gly1607Asp)
c.4631G>A (p.Gly1544Asp)
c.3035G>A (p.Gly1012Asp)
n.5171G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024916C>ACA364430757PKHD1c.4894G>T (p.Gly1632Cys)
c.4252G>T (p.Gly1418Cys)
c.4183G>T (p.Gly1395Cys)
c.4819G>T (p.Gly1607Cys)
c.4630G>T (p.Gly1544Cys)
c.3034G>T (p.Gly1012Cys)
n.5170G>T
6g.52024916C>GCA364430759PKHD1c.4894G>C (p.Gly1632Arg)
c.4252G>C (p.Gly1418Arg)
c.4183G>C (p.Gly1395Arg)
c.4819G>C (p.Gly1607Arg)
c.4630G>C (p.Gly1544Arg)
c.3034G>C (p.Gly1012Arg)
n.5170G>C
6g.52024916C>TCA364430761PKHD1c.4894G>A (p.Gly1632Ser)
c.4252G>A (p.Gly1418Ser)
c.4183G>A (p.Gly1395Ser)
c.4819G>A (p.Gly1607Ser)
c.4630G>A (p.Gly1544Ser)
c.3034G>A (p.Gly1012Ser)
n.5170G>A
 gnomAD v4
6g.52024917A>CCA364430765PKHD1c.4893T>G (p.Asn1631Lys)
c.4251T>G (p.Asn1417Lys)
c.4182T>G (p.Asn1394Lys)
c.4818T>G (p.Asn1606Lys)
c.4629T>G (p.Asn1543Lys)
c.3033T>G (p.Asn1011Lys)
n.5169T>G
6g.52024917A>GCA450613940PKHD1c.4893T>C (p.Asn1631=)
c.4251T>C (p.Asn1417=)
c.4182T>C (p.Asn1394=)
c.4818T>C (p.Asn1606=)
c.4629T>C (p.Asn1543=)
c.3033T>C (p.Asn1011=)
n.5169T>C
6g.52024917A>TCA364430768PKHD1c.4893T>A (p.Asn1631Lys)
c.4251T>A (p.Asn1417Lys)
c.4182T>A (p.Asn1394Lys)
c.4818T>A (p.Asn1606Lys)
c.4629T>A (p.Asn1543Lys)
c.3033T>A (p.Asn1011Lys)
n.5169T>A
6g.52024918T>ACA364430774PKHD1c.4892A>T (p.Asn1631Ile)
c.4250A>T (p.Asn1417Ile)
c.4181A>T (p.Asn1394Ile)
c.4817A>T (p.Asn1606Ile)
c.4628A>T (p.Asn1543Ile)
c.3032A>T (p.Asn1011Ile)
n.5168A>T
6g.52024918T>CCA364430776PKHD1c.4892A>G (p.Asn1631Ser)
c.4250A>G (p.Asn1417Ser)
c.4181A>G (p.Asn1394Ser)
c.4817A>G (p.Asn1606Ser)
c.4628A>G (p.Asn1543Ser)
c.3032A>G (p.Asn1011Ser)
n.5168A>G
 dbSNP gnomAD v2 gnomAD v4
6g.52024918T>GCA364430779PKHD1c.4892A>C (p.Asn1631Thr)
c.4250A>C (p.Asn1417Thr)
c.4181A>C (p.Asn1394Thr)
c.4817A>C (p.Asn1606Thr)
c.4628A>C (p.Asn1543Thr)
c.3032A>C (p.Asn1011Thr)
n.5168A>C
6g.52024918T=CA1628646856PKHD1c.4892A= (p.Asn1631=)
c.4250A= (p.Asn1417=)
c.4181A= (p.Asn1394=)
c.4817A= (p.Asn1606=)
c.4628A= (p.Asn1543=)
c.3032A= (p.Asn1011=)
n.5168A=
6g.52024919T>ACA364430782PKHD1c.4891A>T (p.Asn1631Tyr)
c.4249A>T (p.Asn1417Tyr)
c.4180A>T (p.Asn1394Tyr)
c.4816A>T (p.Asn1606Tyr)
c.4627A>T (p.Asn1543Tyr)
c.3031A>T (p.Asn1011Tyr)
n.5167A>T
6g.52024919T>CCA364430785PKHD1c.4891A>G (p.Asn1631Asp)
c.4249A>G (p.Asn1417Asp)
c.4180A>G (p.Asn1394Asp)
c.4816A>G (p.Asn1606Asp)
c.4627A>G (p.Asn1543Asp)
c.3031A>G (p.Asn1011Asp)
n.5167A>G
 gnomAD v4
6g.52024919T>GCA364430789PKHD1c.4891A>C (p.Asn1631His)
c.4249A>C (p.Asn1417His)
c.4180A>C (p.Asn1394His)
c.4816A>C (p.Asn1606His)
c.4627A>C (p.Asn1543His)
c.3031A>C (p.Asn1011His)
n.5167A>C
 dbSNP
6g.52024919T=CA1628646859PKHD1c.4891A= (p.Asn1631=)
c.4249A= (p.Asn1417=)
c.4180A= (p.Asn1394=)
c.4816A= (p.Asn1606=)
c.4627A= (p.Asn1543=)
c.3031A= (p.Asn1011=)
n.5167A=
6g.52024919_52024920delinsTCCA1628646858PKHD1c.4890_4891delinsGA (p.Gly1630=)
c.4248_4249delinsGA (p.Gly1416=)
c.4179_4180delinsGA (p.Gly1393=)
c.4815_4816delinsGA (p.Gly1605=)
c.4626_4627delinsGA (p.Gly1542=)
c.3030_3031delinsGA (p.Gly1010=)
n.5166_5167delinsGA
6g.52024920C>ACA450613941PKHD1c.4890G>T (p.Gly1630=)
c.4248G>T (p.Gly1416=)
c.4179G>T (p.Gly1393=)
c.4815G>T (p.Gly1605=)
c.4626G>T (p.Gly1542=)
c.3030G>T (p.Gly1010=)
n.5166G>T
 gnomAD v4 COSMIC COSMIC
6g.52024920C>GCA450613942PKHD1c.4890G>C (p.Gly1630=)
c.4248G>C (p.Gly1416=)
c.4179G>C (p.Gly1393=)
c.4815G>C (p.Gly1605=)
c.4626G>C (p.Gly1542=)
c.3030G>C (p.Gly1010=)
n.5166G>C
6g.52024920C>TCA450613943PKHD1c.4890G>A (p.Gly1630=)
c.4248G>A (p.Gly1416=)
c.4179G>A (p.Gly1393=)
c.4815G>A (p.Gly1605=)
c.4626G>A (p.Gly1542=)
c.3030G>A (p.Gly1010=)
n.5166G>A
6g.52024922delCA16041051PKHD1c.4890del (p.Asn1631MetfsTer8)
c.4248del (p.Asn1417MetfsTer8)
c.4179del (p.Asn1394MetfsTer8)
c.4815del (p.Asn1606MetfsTer8)
c.4626del (p.Asn1543MetfsTer8)
c.3030del (p.Asn1011MetfsTer8)
n.5166del
 ClinVar dbSNP
6g.52024921C>ACA364430797PKHD1c.4889G>T (p.Gly1630Val)
c.4247G>T (p.Gly1416Val)
c.4178G>T (p.Gly1393Val)
c.4814G>T (p.Gly1605Val)
c.4625G>T (p.Gly1542Val)
c.3029G>T (p.Gly1010Val)
n.5165G>T
6g.52024921C>GCA364430793PKHD1c.4889G>C (p.Gly1630Ala)
c.4247G>C (p.Gly1416Ala)
c.4178G>C (p.Gly1393Ala)
c.4814G>C (p.Gly1605Ala)
c.4625G>C (p.Gly1542Ala)
c.3029G>C (p.Gly1010Ala)
n.5165G>C
6g.52024921C>TCA364430799PKHD1c.4889G>A (p.Gly1630Glu)
c.4247G>A (p.Gly1416Glu)
c.4178G>A (p.Gly1393Glu)
c.4814G>A (p.Gly1605Glu)
c.4625G>A (p.Gly1542Glu)
c.3029G>A (p.Gly1010Glu)
n.5165G>A
 COSMIC COSMIC
6g.52024922C>ACA364430802PKHD1c.4888G>T (p.Gly1630Trp)
c.4246G>T (p.Gly1416Trp)
c.4177G>T (p.Gly1393Trp)
c.4813G>T (p.Gly1605Trp)
c.4624G>T (p.Gly1542Trp)
c.3028G>T (p.Gly1010Trp)
n.5164G>T
6g.52024922C=CA1628646870PKHD1c.4888G= (p.Gly1630=)
c.4246G= (p.Gly1416=)
c.4177G= (p.Gly1393=)
c.4813G= (p.Gly1605=)
c.4624G= (p.Gly1542=)
c.3028G= (p.Gly1010=)
n.5164G=
6g.52024922C>GCA364430806PKHD1c.4888G>C (p.Gly1630Arg)
c.4246G>C (p.Gly1416Arg)
c.4177G>C (p.Gly1393Arg)
c.4813G>C (p.Gly1605Arg)
c.4624G>C (p.Gly1542Arg)
c.3028G>C (p.Gly1010Arg)
n.5164G>C
6g.52024922C>TCA3852645PKHD1c.4888G>A (p.Gly1630Arg)
c.4246G>A (p.Gly1416Arg)
c.4177G>A (p.Gly1393Arg)
c.4813G>A (p.Gly1605Arg)
c.4624G>A (p.Gly1542Arg)
c.3028G>A (p.Gly1010Arg)
n.5164G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024923T>ACA450613944PKHD1c.4887A>T (p.Thr1629=)
c.4245A>T (p.Thr1415=)
c.4176A>T (p.Thr1392=)
c.4812A>T (p.Thr1604=)
c.4623A>T (p.Thr1541=)
c.3027A>T (p.Thr1009=)
n.5163A>T
6g.52024923T>CCA450613945PKHD1c.4887A>G (p.Thr1629=)
c.4245A>G (p.Thr1415=)
c.4176A>G (p.Thr1392=)
c.4812A>G (p.Thr1604=)
c.4623A>G (p.Thr1541=)
c.3027A>G (p.Thr1009=)
n.5163A>G
6g.52024923T>GCA450613946PKHD1c.4887A>C (p.Thr1629=)
c.4245A>C (p.Thr1415=)
c.4176A>C (p.Thr1392=)
c.4812A>C (p.Thr1604=)
c.4623A>C (p.Thr1541=)
c.3027A>C (p.Thr1009=)
n.5163A>C
6g.52024924G>ACA3852646PKHD1c.4886C>T (p.Thr1629Ile)
c.4244C>T (p.Thr1415Ile)
c.4175C>T (p.Thr1392Ile)
c.4811C>T (p.Thr1604Ile)
c.4622C>T (p.Thr1541Ile)
c.3026C>T (p.Thr1009Ile)
n.5162C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024924G>CCA364430819PKHD1c.4886C>G (p.Thr1629Arg)
c.4244C>G (p.Thr1415Arg)
c.4175C>G (p.Thr1392Arg)
c.4811C>G (p.Thr1604Arg)
c.4622C>G (p.Thr1541Arg)
c.3026C>G (p.Thr1009Arg)
n.5162C>G
6g.52024924G=CA1628646873PKHD1c.4886C= (p.Thr1629=)
c.4244C= (p.Thr1415=)
c.4175C= (p.Thr1392=)
c.4811C= (p.Thr1604=)
c.4622C= (p.Thr1541=)
c.3026C= (p.Thr1009=)
n.5162C=
6g.52024924G>TCA364430821PKHD1c.4886C>A (p.Thr1629Lys)
c.4244C>A (p.Thr1415Lys)
c.4175C>A (p.Thr1392Lys)
c.4811C>A (p.Thr1604Lys)
c.4622C>A (p.Thr1541Lys)
c.3026C>A (p.Thr1009Lys)
n.5162C>A
6g.52024925T>ACA364430826PKHD1c.4885A>T (p.Thr1629Ser)
c.4243A>T (p.Thr1415Ser)
c.4174A>T (p.Thr1392Ser)
c.4810A>T (p.Thr1604Ser)
c.4621A>T (p.Thr1541Ser)
c.3025A>T (p.Thr1009Ser)
n.5161A>T
6g.52024925T>CCA3852647PKHD1c.4885A>G (p.Thr1629Ala)
c.4243A>G (p.Thr1415Ala)
c.4174A>G (p.Thr1392Ala)
c.4810A>G (p.Thr1604Ala)
c.4621A>G (p.Thr1541Ala)
c.3025A>G (p.Thr1009Ala)
n.5161A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024925T>GCA364430829PKHD1c.4885A>C (p.Thr1629Pro)
c.4243A>C (p.Thr1415Pro)
c.4174A>C (p.Thr1392Pro)
c.4810A>C (p.Thr1604Pro)
c.4621A>C (p.Thr1541Pro)
c.3025A>C (p.Thr1009Pro)
n.5161A>C
6g.52024925T=CA1628646876PKHD1c.4885A= (p.Thr1629=)
c.4243A= (p.Thr1415=)
c.4174A= (p.Thr1392=)
c.4810A= (p.Thr1604=)
c.4621A= (p.Thr1541=)
c.3025A= (p.Thr1009=)
n.5161A=
6g.52024926G>ACA450613947PKHD1c.4884C>T (p.Pro1628=)
c.4242C>T (p.Pro1414=)
c.4173C>T (p.Pro1391=)
c.4809C>T (p.Pro1603=)
c.4620C>T (p.Pro1540=)
c.3024C>T (p.Pro1008=)
n.5160C>T
6g.52024926G>CCA450613948PKHD1c.4884C>G (p.Pro1628=)
c.4242C>G (p.Pro1414=)
c.4173C>G (p.Pro1391=)
c.4809C>G (p.Pro1603=)
c.4620C>G (p.Pro1540=)
c.3024C>G (p.Pro1008=)
n.5160C>G
 dbSNP
6g.52024926G>TCA450613949PKHD1c.4884C>A (p.Pro1628=)
c.4242C>A (p.Pro1414=)
c.4173C>A (p.Pro1391=)
c.4809C>A (p.Pro1603=)
c.4620C>A (p.Pro1540=)
c.3024C>A (p.Pro1008=)
n.5160C>A
6g.52024928delCA2679084933PKHD1c.4884del (p.Thr1629GlnfsTer10)
c.4242del (p.Thr1415GlnfsTer10)
c.4173del (p.Thr1392GlnfsTer10)
c.4809del (p.Thr1604GlnfsTer10)
c.4620del (p.Thr1541GlnfsTer10)
c.3024del (p.Thr1009GlnfsTer10)
n.5160del
 gnomAD v4
6g.52024927G>ACA364430831PKHD1c.4883C>T (p.Pro1628Leu)
c.4241C>T (p.Pro1414Leu)
c.4172C>T (p.Pro1391Leu)
c.4808C>T (p.Pro1603Leu)
c.4619C>T (p.Pro1540Leu)
c.3023C>T (p.Pro1008Leu)
n.5159C>T
 gnomAD v4 COSMIC COSMIC
6g.52024927G>CCA364430835PKHD1c.4883C>G (p.Pro1628Arg)
c.4241C>G (p.Pro1414Arg)
c.4172C>G (p.Pro1391Arg)
c.4808C>G (p.Pro1603Arg)
c.4619C>G (p.Pro1540Arg)
c.3023C>G (p.Pro1008Arg)
n.5159C>G
6g.52024927G>TCA364430837PKHD1c.4883C>A (p.Pro1628His)
c.4241C>A (p.Pro1414His)
c.4172C>A (p.Pro1391His)
c.4808C>A (p.Pro1603His)
c.4619C>A (p.Pro1540His)
c.3023C>A (p.Pro1008His)
n.5159C>A
6g.52024928G>ACA138946306PKHD1c.4882C>T (p.Pro1628Ser)
c.4240C>T (p.Pro1414Ser)
c.4171C>T (p.Pro1391Ser)
c.4807C>T (p.Pro1603Ser)
c.4618C>T (p.Pro1540Ser)
c.3022C>T (p.Pro1008Ser)
n.5158C>T
 dbSNP gnomAD v4
6g.52024928G>CCA3852648PKHD1c.4882C>G (p.Pro1628Ala)
c.4240C>G (p.Pro1414Ala)
c.4171C>G (p.Pro1391Ala)
c.4807C>G (p.Pro1603Ala)
c.4618C>G (p.Pro1540Ala)
c.3022C>G (p.Pro1008Ala)
n.5158C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024928G=CA1628646880PKHD1c.4882C= (p.Pro1628=)
c.4240C= (p.Pro1414=)
c.4171C= (p.Pro1391=)
c.4807C= (p.Pro1603=)
c.4618C= (p.Pro1540=)
c.3022C= (p.Pro1008=)
n.5158C=
6g.52024928G>TCA364430840PKHD1c.4882C>A (p.Pro1628Thr)
c.4240C>A (p.Pro1414Thr)
c.4171C>A (p.Pro1391Thr)
c.4807C>A (p.Pro1603Thr)
c.4618C>A (p.Pro1540Thr)
c.3022C>A (p.Pro1008Thr)
n.5158C>A
6g.52024929A>CCA450613951PKHD1c.4881T>G (p.Val1627=)
c.4239T>G (p.Val1413=)
c.4170T>G (p.Val1390=)
c.4806T>G (p.Val1602=)
c.4617T>G (p.Val1539=)
c.3021T>G (p.Val1007=)
n.5157T>G
6g.52024929A>GCA450613952PKHD1c.4881T>C (p.Val1627=)
c.4239T>C (p.Val1413=)
c.4170T>C (p.Val1390=)
c.4806T>C (p.Val1602=)
c.4617T>C (p.Val1539=)
c.3021T>C (p.Val1007=)
n.5157T>C
6g.52024929A>TCA450613950PKHD1c.4881T>A (p.Val1627=)
c.4239T>A (p.Val1413=)
c.4170T>A (p.Val1390=)
c.4806T>A (p.Val1602=)
c.4617T>A (p.Val1539=)
c.3021T>A (p.Val1007=)
n.5157T>A
6g.52024930A=CA1628646883PKHD1c.4880T= (p.Val1627=)
c.4238T= (p.Val1413=)
c.4169T= (p.Val1390=)
c.4805T= (p.Val1602=)
c.4616T= (p.Val1539=)
c.3020T= (p.Val1007=)
n.5156T=
6g.52024930A>CCA364430855PKHD1c.4880T>G (p.Val1627Gly)
c.4238T>G (p.Val1413Gly)
c.4169T>G (p.Val1390Gly)
c.4805T>G (p.Val1602Gly)
c.4616T>G (p.Val1539Gly)
c.3020T>G (p.Val1007Gly)
n.5156T>G
6g.52024930A>GCA364430857PKHD1c.4880T>C (p.Val1627Ala)
c.4238T>C (p.Val1413Ala)
c.4169T>C (p.Val1390Ala)
c.4805T>C (p.Val1602Ala)
c.4616T>C (p.Val1539Ala)
c.3020T>C (p.Val1007Ala)
n.5156T>C
 ClinVar dbSNP gnomAD v4
6g.52024930A>TCA364430860PKHD1c.4880T>A (p.Val1627Asp)
c.4238T>A (p.Val1413Asp)
c.4169T>A (p.Val1390Asp)
c.4805T>A (p.Val1602Asp)
c.4616T>A (p.Val1539Asp)
c.3020T>A (p.Val1007Asp)
n.5156T>A
6g.52024931C>ACA364430864PKHD1c.4879G>T (p.Val1627Phe)
c.4237G>T (p.Val1413Phe)
c.4168G>T (p.Val1390Phe)
c.4804G>T (p.Val1602Phe)
c.4615G>T (p.Val1539Phe)
c.3019G>T (p.Val1007Phe)
n.5155G>T
6g.52024931C>GCA364430866PKHD1c.4879G>C (p.Val1627Leu)
c.4237G>C (p.Val1413Leu)
c.4168G>C (p.Val1390Leu)
c.4804G>C (p.Val1602Leu)
c.4615G>C (p.Val1539Leu)
c.3019G>C (p.Val1007Leu)
n.5155G>C
6g.52024931C>TCA364430868PKHD1c.4879G>A (p.Val1627Ile)
c.4237G>A (p.Val1413Ile)
c.4168G>A (p.Val1390Ile)
c.4804G>A (p.Val1602Ile)
c.4615G>A (p.Val1539Ile)
c.3019G>A (p.Val1007Ile)
n.5155G>A
6g.52024932A>CCA364430872PKHD1c.4878T>G (p.Ile1626Met)
c.4236T>G (p.Ile1412Met)
c.4167T>G (p.Ile1389Met)
c.4803T>G (p.Ile1601Met)
c.4614T>G (p.Ile1538Met)
c.3018T>G (p.Ile1006Met)
n.5154T>G
6g.52024932A>GCA450613953PKHD1c.4878T>C (p.Ile1626=)
c.4236T>C (p.Ile1412=)
c.4167T>C (p.Ile1389=)
c.4803T>C (p.Ile1601=)
c.4614T>C (p.Ile1538=)
c.3018T>C (p.Ile1006=)
n.5154T>C
6g.52024932A>TCA450613954PKHD1c.4878T>A (p.Ile1626=)
c.4236T>A (p.Ile1412=)
c.4167T>A (p.Ile1389=)
c.4803T>A (p.Ile1601=)
c.4614T>A (p.Ile1538=)
c.3018T>A (p.Ile1006=)
n.5154T>A
6g.52024933A>CCA364430875PKHD1c.4877T>G (p.Ile1626Ser)
c.4235T>G (p.Ile1412Ser)
c.4166T>G (p.Ile1389Ser)
c.4802T>G (p.Ile1601Ser)
c.4613T>G (p.Ile1538Ser)
c.3017T>G (p.Ile1006Ser)
n.5153T>G
6g.52024933A>GCA364430877PKHD1c.4877T>C (p.Ile1626Thr)
c.4235T>C (p.Ile1412Thr)
c.4166T>C (p.Ile1389Thr)
c.4802T>C (p.Ile1601Thr)
c.4613T>C (p.Ile1538Thr)
c.3017T>C (p.Ile1006Thr)
n.5153T>C
6g.52024933A>TCA364430880PKHD1c.4877T>A (p.Ile1626Asn)
c.4235T>A (p.Ile1412Asn)
c.4166T>A (p.Ile1389Asn)
c.4802T>A (p.Ile1601Asn)
c.4613T>A (p.Ile1538Asn)
c.3017T>A (p.Ile1006Asn)
n.5153T>A
6g.52024934T>ACA3852649PKHD1c.4876A>T (p.Ile1626Phe)
c.4234A>T (p.Ile1412Phe)
c.4165A>T (p.Ile1389Phe)
c.4801A>T (p.Ile1601Phe)
c.4612A>T (p.Ile1538Phe)
c.3016A>T (p.Ile1006Phe)
n.5152A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024934T>CCA10604837PKHD1c.4876A>G (p.Ile1626Val)
c.4234A>G (p.Ile1412Val)
c.4165A>G (p.Ile1389Val)
c.4801A>G (p.Ile1601Val)
c.4612A>G (p.Ile1538Val)
c.3016A>G (p.Ile1006Val)
n.5152A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52024934T>GCA364430886PKHD1c.4876A>C (p.Ile1626Leu)
c.4234A>C (p.Ile1412Leu)
c.4165A>C (p.Ile1389Leu)
c.4801A>C (p.Ile1601Leu)
c.4612A>C (p.Ile1538Leu)
c.3016A>C (p.Ile1006Leu)
n.5152A>C
6g.52024934T=CA1628646886PKHD1c.4876A= (p.Ile1626=)
c.4234A= (p.Ile1412=)
c.4165A= (p.Ile1389=)
c.4801A= (p.Ile1601=)
c.4612A= (p.Ile1538=)
c.3016A= (p.Ile1006=)
n.5152A=
6g.52024935G>ACA450613959PKHD1c.4875C>T (p.Cys1625=)
c.4233C>T (p.Cys1411=)
c.4164C>T (p.Cys1388=)
c.4800C>T (p.Cys1600=)
c.4611C>T (p.Cys1537=)
c.3015C>T (p.Cys1005=)
n.5151C>T
6g.52024935G>CCA364430896PKHD1c.4875C>G (p.Cys1625Trp)
c.4233C>G (p.Cys1411Trp)
c.4164C>G (p.Cys1388Trp)
c.4800C>G (p.Cys1600Trp)
c.4611C>G (p.Cys1537Trp)
c.3015C>G (p.Cys1005Trp)
n.5151C>G
6g.52024935G>TCA364430894PKHD1c.4875C>A (p.Cys1625Ter)
c.4233C>A (p.Cys1411Ter)
c.4164C>A (p.Cys1388Ter)
c.4800C>A (p.Cys1600Ter)
c.4611C>A (p.Cys1537Ter)
c.3015C>A (p.Cys1005Ter)
n.5151C>A
6g.52024936C>ACA364430899PKHD1c.4874G>T (p.Cys1625Phe)
c.4232G>T (p.Cys1411Phe)
c.4163G>T (p.Cys1388Phe)
c.4799G>T (p.Cys1600Phe)
c.4610G>T (p.Cys1537Phe)
c.3014G>T (p.Cys1005Phe)
n.5150G>T
6g.52024936C>GCA364430902PKHD1c.4874G>C (p.Cys1625Ser)
c.4232G>C (p.Cys1411Ser)
c.4163G>C (p.Cys1388Ser)
c.4799G>C (p.Cys1600Ser)
c.4610G>C (p.Cys1537Ser)
c.3014G>C (p.Cys1005Ser)
n.5150G>C
6g.52024936C>TCA364430905PKHD1c.4874G>A (p.Cys1625Tyr)
c.4232G>A (p.Cys1411Tyr)
c.4163G>A (p.Cys1388Tyr)
c.4799G>A (p.Cys1600Tyr)
c.4610G>A (p.Cys1537Tyr)
c.3014G>A (p.Cys1005Tyr)
n.5150G>A
6g.52024937A>CCA364430906PKHD1c.4873T>G (p.Cys1625Gly)
c.4231T>G (p.Cys1411Gly)
c.4162T>G (p.Cys1388Gly)
c.4798T>G (p.Cys1600Gly)
c.4609T>G (p.Cys1537Gly)
c.3013T>G (p.Cys1005Gly)
n.5149T>G
6g.52024937A>GCA364430907PKHD1c.4873T>C (p.Cys1625Arg)
c.4231T>C (p.Cys1411Arg)
c.4162T>C (p.Cys1388Arg)
c.4798T>C (p.Cys1600Arg)
c.4609T>C (p.Cys1537Arg)
c.3013T>C (p.Cys1005Arg)
n.5149T>C
6g.52024937A>TCA364430908PKHD1c.4873T>A (p.Cys1625Ser)
c.4231T>A (p.Cys1411Ser)
c.4162T>A (p.Cys1388Ser)
c.4798T>A (p.Cys1600Ser)
c.4609T>A (p.Cys1537Ser)
c.3013T>A (p.Cys1005Ser)
n.5149T>A
6g.52024938C>ACA450613962PKHD1c.4872G>T (p.Arg1624=)
c.4230G>T (p.Arg1410=)
c.4161G>T (p.Arg1387=)
c.4797G>T (p.Arg1599=)
c.4608G>T (p.Arg1536=)
c.3012G>T (p.Arg1004=)
n.5148G>T
6g.52024938C>GCA450613963PKHD1c.4872G>C (p.Arg1624=)
c.4230G>C (p.Arg1410=)
c.4161G>C (p.Arg1387=)
c.4797G>C (p.Arg1599=)
c.4608G>C (p.Arg1536=)
c.3012G>C (p.Arg1004=)
n.5148G>C
6g.52024938C>TCA450613964PKHD1c.4872G>A (p.Arg1624=)
c.4230G>A (p.Arg1410=)
c.4161G>A (p.Arg1387=)
c.4797G>A (p.Arg1599=)
c.4608G>A (p.Arg1536=)
c.3012G>A (p.Arg1004=)
n.5148G>A
 gnomAD v4
6g.52024939C>ACA364430918PKHD1c.4871G>T (p.Arg1624Leu)
c.4229G>T (p.Arg1410Leu)
c.4160G>T (p.Arg1387Leu)
c.4796G>T (p.Arg1599Leu)
c.4607G>T (p.Arg1536Leu)
c.3011G>T (p.Arg1004Leu)
n.5147G>T
6g.52024939C=CA1628646892PKHD1c.4871G= (p.Arg1624=)
c.4229G= (p.Arg1410=)
c.4160G= (p.Arg1387=)
c.4796G= (p.Arg1599=)
c.4607G= (p.Arg1536=)
c.3011G= (p.Arg1004=)
n.5147G=
6g.52024939C>GCA364430910PKHD1c.4871G>C (p.Arg1624Pro)
c.4229G>C (p.Arg1410Pro)
c.4160G>C (p.Arg1387Pro)
c.4796G>C (p.Arg1599Pro)
c.4607G>C (p.Arg1536Pro)
c.3011G>C (p.Arg1004Pro)
n.5147G>C
6g.52024939C>TCA3852650PKHD1c.4871G>A (p.Arg1624Gln)
c.4229G>A (p.Arg1410Gln)
c.4160G>A (p.Arg1387Gln)
c.4796G>A (p.Arg1599Gln)
c.4607G>A (p.Arg1536Gln)
c.3011G>A (p.Arg1004Gln)
n.5147G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024940G>ACA334736PKHD1c.4870C>T (p.Arg1624Trp)
c.4228C>T (p.Arg1410Trp)
c.4159C>T (p.Arg1387Trp)
c.4795C>T (p.Arg1599Trp)
c.4606C>T (p.Arg1536Trp)
c.3010C>T (p.Arg1004Trp)
n.5146C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52024940G>CCA364430923PKHD1c.4870C>G (p.Arg1624Gly)
c.4228C>G (p.Arg1410Gly)
c.4159C>G (p.Arg1387Gly)
c.4795C>G (p.Arg1599Gly)
c.4606C>G (p.Arg1536Gly)
c.3010C>G (p.Arg1004Gly)
n.5146C>G
 gnomAD v4
6g.52024940G=CA1628646899PKHD1c.4870C= (p.Arg1624=)
c.4228C= (p.Arg1410=)
c.4159C= (p.Arg1387=)
c.4795C= (p.Arg1599=)
c.4606C= (p.Arg1536=)
c.3010C= (p.Arg1004=)
n.5146C=
6g.52024940G>TCA450613967PKHD1c.4870C>A (p.Arg1624=)
c.4228C>A (p.Arg1410=)
c.4159C>A (p.Arg1387=)
c.4795C>A (p.Arg1599=)
c.4606C>A (p.Arg1536=)
c.3010C>A (p.Arg1004=)
n.5146C>A
 ClinVar
6g.52024941G>ACA450613970PKHD1c.4869C>T (p.Ile1623=)
c.4227C>T (p.Ile1409=)
c.4158C>T (p.Ile1386=)
c.4794C>T (p.Ile1598=)
c.4605C>T (p.Ile1535=)
c.3009C>T (p.Ile1003=)
n.5145C>T
6g.52024941G>CCA364430926PKHD1c.4869C>G (p.Ile1623Met)
c.4227C>G (p.Ile1409Met)
c.4158C>G (p.Ile1386Met)
c.4794C>G (p.Ile1598Met)
c.4605C>G (p.Ile1535Met)
c.3009C>G (p.Ile1003Met)
n.5145C>G
6g.52024941G>TCA450613969PKHD1c.4869C>A (p.Ile1623=)
c.4227C>A (p.Ile1409=)
c.4158C>A (p.Ile1386=)
c.4794C>A (p.Ile1598=)
c.4605C>A (p.Ile1535=)
c.3009C>A (p.Ile1003=)
n.5145C>A
6g.52024942A=CA1628646903PKHD1c.4868T= (p.Ile1623=)
c.4226T= (p.Ile1409=)
c.4157T= (p.Ile1386=)
c.4793T= (p.Ile1598=)
c.4604T= (p.Ile1535=)
c.3008T= (p.Ile1003=)
n.5144T=
6g.52024942A>CCA138946350PKHD1c.4868T>G (p.Ile1623Ser)
c.4226T>G (p.Ile1409Ser)
c.4157T>G (p.Ile1386Ser)
c.4793T>G (p.Ile1598Ser)
c.4604T>G (p.Ile1535Ser)
c.3008T>G (p.Ile1003Ser)
n.5144T>G
 dbSNP
6g.52024942A>GCA364430931PKHD1c.4868T>C (p.Ile1623Thr)
c.4226T>C (p.Ile1409Thr)
c.4157T>C (p.Ile1386Thr)
c.4793T>C (p.Ile1598Thr)
c.4604T>C (p.Ile1535Thr)
c.3008T>C (p.Ile1003Thr)
n.5144T>C
6g.52024942A>TCA364430933PKHD1c.4868T>A (p.Ile1623Asn)
c.4226T>A (p.Ile1409Asn)
c.4157T>A (p.Ile1386Asn)
c.4793T>A (p.Ile1598Asn)
c.4604T>A (p.Ile1535Asn)
c.3008T>A (p.Ile1003Asn)
n.5144T>A
6g.52024943T>ACA364430938PKHD1c.4867A>T (p.Ile1623Phe)
c.4225A>T (p.Ile1409Phe)
c.4156A>T (p.Ile1386Phe)
c.4792A>T (p.Ile1598Phe)
c.4603A>T (p.Ile1535Phe)
c.3007A>T (p.Ile1003Phe)
n.5143A>T
6g.52024943T>CCA364430941PKHD1c.4867A>G (p.Ile1623Val)
c.4225A>G (p.Ile1409Val)
c.4156A>G (p.Ile1386Val)
c.4792A>G (p.Ile1598Val)
c.4603A>G (p.Ile1535Val)
c.3007A>G (p.Ile1003Val)
n.5143A>G
6g.52024943T>GCA364430939PKHD1c.4867A>C (p.Ile1623Leu)
c.4225A>C (p.Ile1409Leu)
c.4156A>C (p.Ile1386Leu)
c.4792A>C (p.Ile1598Leu)
c.4603A>C (p.Ile1535Leu)
c.3007A>C (p.Ile1003Leu)
n.5143A>C
 dbSNP gnomAD v4
6g.52024944G>ACA450613971PKHD1c.4866C>T (p.Leu1622=)
c.4224C>T (p.Leu1408=)
c.4155C>T (p.Leu1385=)
c.4791C>T (p.Leu1597=)
c.4602C>T (p.Leu1534=)
c.3006C>T (p.Leu1002=)
n.5142C>T
 gnomAD v4
6g.52024944G>CCA450613972PKHD1c.4866C>G (p.Leu1622=)
c.4224C>G (p.Leu1408=)
c.4155C>G (p.Leu1385=)
c.4791C>G (p.Leu1597=)
c.4602C>G (p.Leu1534=)
c.3006C>G (p.Leu1002=)
n.5142C>G
6g.52024944G=CA1628646907PKHD1c.4866C= (p.Leu1622=)
c.4224C= (p.Leu1408=)
c.4155C= (p.Leu1385=)
c.4791C= (p.Leu1597=)
c.4602C= (p.Leu1534=)
c.3006C= (p.Leu1002=)
n.5142C=
6g.52024944G>TCA3852651PKHD1c.4866C>A (p.Leu1622=)
c.4224C>A (p.Leu1408=)
c.4155C>A (p.Leu1385=)
c.4791C>A (p.Leu1597=)
c.4602C>A (p.Leu1534=)
c.3006C>A (p.Leu1002=)
n.5142C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024945A>CCA364430945PKHD1c.4865T>G (p.Leu1622Arg)
c.4223T>G (p.Leu1408Arg)
c.4154T>G (p.Leu1385Arg)
c.4790T>G (p.Leu1597Arg)
c.4601T>G (p.Leu1534Arg)
c.3005T>G (p.Leu1002Arg)
n.5141T>G
6g.52024945A>GCA364430947PKHD1c.4865T>C (p.Leu1622Pro)
c.4223T>C (p.Leu1408Pro)
c.4154T>C (p.Leu1385Pro)
c.4790T>C (p.Leu1597Pro)
c.4601T>C (p.Leu1534Pro)
c.3005T>C (p.Leu1002Pro)
n.5141T>C
6g.52024945A>TCA364430953PKHD1c.4865T>A (p.Leu1622His)
c.4223T>A (p.Leu1408His)
c.4154T>A (p.Leu1385His)
c.4790T>A (p.Leu1597His)
c.4601T>A (p.Leu1534His)
c.3005T>A (p.Leu1002His)
n.5141T>A
6g.52024946G>ACA3852652PKHD1c.4864C>T (p.Leu1622Phe)
c.4222C>T (p.Leu1408Phe)
c.4153C>T (p.Leu1385Phe)
c.4789C>T (p.Leu1597Phe)
c.4600C>T (p.Leu1534Phe)
c.3004C>T (p.Leu1002Phe)
n.5140C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024946G>CCA364430957PKHD1c.4864C>G (p.Leu1622Val)
c.4222C>G (p.Leu1408Val)
c.4153C>G (p.Leu1385Val)
c.4789C>G (p.Leu1597Val)
c.4600C>G (p.Leu1534Val)
c.3004C>G (p.Leu1002Val)
n.5140C>G
6g.52024946G=CA1628646911PKHD1c.4864C= (p.Leu1622=)
c.4222C= (p.Leu1408=)
c.4153C= (p.Leu1385=)
c.4789C= (p.Leu1597=)
c.4600C= (p.Leu1534=)
c.3004C= (p.Leu1002=)
n.5140C=
6g.52024946G>TCA364430958PKHD1c.4864C>A (p.Leu1622Ile)
c.4222C>A (p.Leu1408Ile)
c.4153C>A (p.Leu1385Ile)
c.4789C>A (p.Leu1597Ile)
c.4600C>A (p.Leu1534Ile)
c.3004C>A (p.Leu1002Ile)
n.5140C>A
6g.52024947delCA2679084934PKHD1c.4863del (p.Glu1621AspfsTer18)
c.4221del (p.Glu1407AspfsTer18)
c.4152del (p.Glu1384AspfsTer18)
c.4788del (p.Glu1596AspfsTer18)
c.4599del (p.Glu1533AspfsTer18)
c.3003del (p.Glu1001AspfsTer18)
n.5139del
 gnomAD v4
6g.52024947C>ACA364430961PKHD1c.4863G>T (p.Glu1621Asp)
c.4221G>T (p.Glu1407Asp)
c.4152G>T (p.Glu1384Asp)
c.4788G>T (p.Glu1596Asp)
c.4599G>T (p.Glu1533Asp)
c.3003G>T (p.Glu1001Asp)
n.5139G>T
6g.52024947C>GCA364430963PKHD1c.4863G>C (p.Glu1621Asp)
c.4221G>C (p.Glu1407Asp)
c.4152G>C (p.Glu1384Asp)
c.4788G>C (p.Glu1596Asp)
c.4599G>C (p.Glu1533Asp)
c.3003G>C (p.Glu1001Asp)
n.5139G>C
6g.52024947C>TCA450613974PKHD1c.4863G>A (p.Glu1621=)
c.4221G>A (p.Glu1407=)
c.4152G>A (p.Glu1384=)
c.4788G>A (p.Glu1596=)
c.4599G>A (p.Glu1533=)
c.3003G>A (p.Glu1001=)
n.5139G>A
6g.52024948T>ACA364430964PKHD1c.4862A>T (p.Glu1621Val)
c.4220A>T (p.Glu1407Val)
c.4151A>T (p.Glu1384Val)
c.4787A>T (p.Glu1596Val)
c.4598A>T (p.Glu1533Val)
c.3002A>T (p.Glu1001Val)
n.5138A>T
6g.52024948T>CCA364430967PKHD1c.4862A>G (p.Glu1621Gly)
c.4220A>G (p.Glu1407Gly)
c.4151A>G (p.Glu1384Gly)
c.4787A>G (p.Glu1596Gly)
c.4598A>G (p.Glu1533Gly)
c.3002A>G (p.Glu1001Gly)
n.5138A>G
 gnomAD v4
6g.52024948T>GCA364430969PKHD1c.4862A>C (p.Glu1621Ala)
c.4220A>C (p.Glu1407Ala)
c.4151A>C (p.Glu1384Ala)
c.4787A>C (p.Glu1596Ala)
c.4598A>C (p.Glu1533Ala)
c.3002A>C (p.Glu1001Ala)
n.5138A>C
6g.52024949C>ACA364430971PKHD1c.4861G>T (p.Glu1621Ter)
c.4219G>T (p.Glu1407Ter)
c.4150G>T (p.Glu1384Ter)
c.4786G>T (p.Glu1596Ter)
c.4597G>T (p.Glu1533Ter)
c.3001G>T (p.Glu1001Ter)
n.5137G>T
6g.52024949C>GCA364430976PKHD1c.4861G>C (p.Glu1621Gln)
c.4219G>C (p.Glu1407Gln)
c.4150G>C (p.Glu1384Gln)
c.4786G>C (p.Glu1596Gln)
c.4597G>C (p.Glu1533Gln)
c.3001G>C (p.Glu1001Gln)
n.5137G>C
6g.52024949C>TCA364430973PKHD1c.4861G>A (p.Glu1621Lys)
c.4219G>A (p.Glu1407Lys)
c.4150G>A (p.Glu1384Lys)
c.4786G>A (p.Glu1596Lys)
c.4597G>A (p.Glu1533Lys)
c.3001G>A (p.Glu1001Lys)
n.5137G>A
6g.52024950A>CCA450613980PKHD1c.4860T>G (p.Ala1620=)
c.4218T>G (p.Ala1406=)
c.4149T>G (p.Ala1383=)
c.4785T>G (p.Ala1595=)
c.4596T>G (p.Ala1532=)
c.3000T>G (p.Ala1000=)
n.5136T>G
6g.52024950A>GCA450613981PKHD1c.4860T>C (p.Ala1620=)
c.4218T>C (p.Ala1406=)
c.4149T>C (p.Ala1383=)
c.4785T>C (p.Ala1595=)
c.4596T>C (p.Ala1532=)
c.3000T>C (p.Ala1000=)
n.5136T>C
6g.52024950A>TCA450613982PKHD1c.4860T>A (p.Ala1620=)
c.4218T>A (p.Ala1406=)
c.4149T>A (p.Ala1383=)
c.4785T>A (p.Ala1595=)
c.4596T>A (p.Ala1532=)
c.3000T>A (p.Ala1000=)
n.5136T>A
6g.52024951G>ACA364430979PKHD1c.4859C>T (p.Ala1620Val)
c.4217C>T (p.Ala1406Val)
c.4148C>T (p.Ala1383Val)
c.4784C>T (p.Ala1595Val)
c.4595C>T (p.Ala1532Val)
c.2999C>T (p.Ala1000Val)
n.5135C>T
6g.52024951G>CCA364430983PKHD1c.4859C>G (p.Ala1620Gly)
c.4217C>G (p.Ala1406Gly)
c.4148C>G (p.Ala1383Gly)
c.4784C>G (p.Ala1595Gly)
c.4595C>G (p.Ala1532Gly)
c.2999C>G (p.Ala1000Gly)
n.5135C>G
6g.52024951G>TCA364430982PKHD1c.4859C>A (p.Ala1620Asp)
c.4217C>A (p.Ala1406Asp)
c.4148C>A (p.Ala1383Asp)
c.4784C>A (p.Ala1595Asp)
c.4595C>A (p.Ala1532Asp)
c.2999C>A (p.Ala1000Asp)
n.5135C>A
 gnomAD v4 COSMIC COSMIC

Number of alleles fetched